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This activity features three challenging germline variant interpretation cases to assess and improve your diagnostic skills in variant interpretation. You will be presented with a clinical summary, pertinent literature and database findings, and other significant clinical and/or biological information along with interactive questions to assist you in determining the correct interpretation of each case’s variant.
These cases were designed to comply with the 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants by the CAP/ACMG Biochemical and Molecular Genetics Committee.
After completing this activity, you should be able to:
- Identify available resources used for variant interpretation.
- Demonstrate how to use evidence and apply criteria for consistent interpretation of sequence variants.
- Determine whether a sequence variant is related to the presenting phenotype of the proband.
- Determine how to select the most clinically significant variant(s) for reporting, when presented with multiple sequence variants.
Joshua Deignan, PhD, ABMGG
Ann Moyer, MD, PhD, FCAP
Angshumoy Roy, MD, PhD, FCAP
Brian Shirts, MD, PhD, FCAP
James Solomon, MD, PhD, FCAP
Richard Wong, MD, PhD, FCAP
Bing Zhang, MD, MSc, FCAP
Nicole Mot, MLS(ASCP)
Accreditation: The College of American Pathologists (CAP) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
CME Category 1: The College of American Pathologists designates this internet enduring material educational activity for a maximum of 3.75 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
CE (Continuing Education for non-physicians): The CAP designates this educational activity for a maximum of 3.75 credit(s) of continuing education. Participants should claim only the credit commensurate with the extent of their participation in the activity.
This activity meets the American Board of Pathology’s (ABPath) Continuing Certification (CC) requirements for Improvement in Medical Practice (IMP).
This activity is approved for continuing education credit in the states of California and Florida.
The American Society for Clinical Pathology (ASCP) Board of Certification (BOC) Certification Maintenance Program (CMP) accepts this activity to meet the continuing education requirements.
To pay with a check, print a copy of this page and send it with your check to the address below. You will be notified when your payment has been processed and you have been registered into the activity.
College of American Pathologists
325 Waukegan Road
Northfield, IL 60093-2750
Refunds will be handled on an exception basis. Please submit your request to the CAP in writing via email at
email@example.com or fax at 847-832-8006.
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This activity and evaluation are available July 25, 2022, and expire July 24, 2023, at 12:00 AM (ET). You must claim credit by this date and time.