Submissions for variant NM_000257.4(MYH7):c.5412C>G (p.Ala1804=)

gnomAD frequency: 0.00019  dbSNP: rs147433856

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228562	SCV000284286	likely benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621223	SCV000740126	likely benign	Cardiovascular phenotype	2017-04-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV001180040	SCV001344889	likely benign	Cardiomyopathy	2018-12-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001699254	SCV003934393	likely benign	not specified	2023-05-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001180040	SCV004239482	likely benign	Cardiomyopathy	2023-02-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699254	SCV001924898	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726061	SCV001963431	likely benign	not provided		no assertion criteria provided	clinical testing