Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_000257.3(MYH7):c.3337-3dupC

CA013590

42956 (ClinVar)

Gene: MYH7

Condition: cardiomyopathy

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: ad81c356-fbf8-4c6d-903e-c43fb05f8288

Approved on: 2016-12-15

Published on: 2018-11-16

HGVS expressions

NM_000257.3:c.3337-3_3337-2insC

NM_000257.3:c.3337-3dupC

NM_000257.3(MYH7):c.3337-3dupC

NC_000014.9:g.23420238dup

CM000676.2:g.23420238dup

NC_000014.8:g.23889447dup

CM000676.1:g.23889447dup

NC_000014.7:g.22959287dup

NG_007884.1:g.20425dup

NM_000257.3:c.3337-3dup

NM_000257.4:c.3337-3dup

ENST00000355349.3:c.3337-3dup

Benign

BA1

Evidence Links 0

Expert Panel

Cardiomyopathy VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Cardiomyopathy VCEP

The filtering allele frequency of the c.3337-3dupC variant in the MYH7 gene is 0.23% (146/54400) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).

BA1

The filtering allele frequency of the c.3337-3dupC variant in the MYH7 gene is 0.23% (146/54400) of European chromosomes by the Exome Aggregation Consortium

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.