Submissions for variant NM_002471.4(MYH6):c.4299C>T (p.Asp1433=)

gnomAD frequency: 0.00001  dbSNP: rs765006624

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770436	SCV000901879	uncertain significance	Cardiomyopathy	2015-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001435845	SCV001638674	likely benign	Hypertrophic cardiomyopathy 14	2024-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024142	SCV005018938	likely benign	Cardiovascular phenotype	2023-12-15	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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000556217	SCV001951447	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000556217	SCV001966414	likely benign	not provided		no assertion criteria provided	clinical testing