ClinVar

ACMG Recommendations for Reporting of Secondary Findings in Clinical Exome and Genome Sequencing

The American College of Medical Genetics and Genomics has published recommendations for reporting secondary findings in clinical exome and genome sequencing.

The most recent recommendation is ACMG SF v3.2. Compared to the previous version, three genes were added - CALM1, CALM2, and CALM3. No genes were removed between the v3.2 and v3.1 lists.

The original published recommendation (PubMed 23788249) and the original PDF file are available, as well as clarifications and updates. Please note that NTRK1 was removed in an update to the original list.

NCBI adapted Table 1 of the original recommendation to facilitate access to information about the genes and diseases the table cites and to provide links to variation asserted to be pathogenic or likely pathogenic by at least one submitter to ClinVar. The content was generated from the MIM numbers reported in the ACMG recommendations, but disease names may be updated to correspond to what is used in MedGen for that MIM number. The link to ClinVar is provided only to support access; the results should not be interpreted as a statement that these alleles are universally accepted to be pathogenic or likely pathogenic.