ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.1068C>T (p.Val356=)

gnomAD frequency: 0.01142  dbSNP: rs17340492
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039777 SCV000063466 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
GeneDx RCV000039777 SCV000170581 benign not specified 2014-03-07 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 RCV000226105 SCV000291166 benign Hypertrophic cardiomyopathy 1 2025-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000226105 SCV001159052 benign Hypertrophic cardiomyopathy 1 2023-10-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170853 SCV001333474 benign Cardiomyopathy 2019-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000039777 SCV002720541 likely benign not specified 2022-05-17 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.
Breakthrough Genomics, Breakthrough Genomics RCV004716918 SCV005315017 benign not provided criteria provided, single submitter not provided

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