ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.456C>T (p.Tyr152=)

gnomAD frequency: 0.00005  dbSNP: rs199815885
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244942 SCV000318257 likely benign Cardiovascular phenotype 2017-04-28 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.
GeneDx RCV001722368 SCV000522148 likely benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534152 SCV000638399 benign Hypertrophic cardiomyopathy 10 2024-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777833 SCV000913832 benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999015 SCV004845813 benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729497 SCV001978947 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001722368 SCV001980467 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535215 SCV004711726 likely benign MYL2-related disorder 2020-08-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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