Submissions for variant NM_001103.4(ACTN2):c.1332C>T (p.His444=)

gnomAD frequency: 0.00001  dbSNP: rs373709019

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123512	SCV000166850	benign	not specified	2014-05-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001469175	SCV001673247	likely benign	Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy	2023-11-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798410	SCV002042956	likely benign	Cardiomyopathy	2020-03-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381434	SCV002693076	likely benign	Cardiovascular phenotype	2021-07-26	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.