Submissions for variant NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)

gnomAD frequency: 0.00067  dbSNP: rs199838024

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001196001	SCV001366429	uncertain significance	Hypertrophic cardiomyopathy 14	2019-02-14	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001196001	SCV002408048	benign	Hypertrophic cardiomyopathy 14	2023-05-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001726448	SCV002504286	likely benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002436769	SCV002747460	likely benign	Cardiovascular phenotype	2022-05-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Clinical Genetics, Academic Medical Center	RCV001701304	SCV001917592	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001726448	SCV001962844	likely benign	not provided		no assertion criteria provided	clinical testing