ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5139G>A (p.Val1713=)

gnomAD frequency: 0.00011  dbSNP: rs369562442
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168911 SCV000616802 benign not provided 2020-12-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#188641; Landrum et al., 2016)
Ambry Genetics RCV000617588 SCV000736536 likely benign Cardiovascular phenotype 2016-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV001186297 SCV001352678 likely benign Cardiomyopathy 2019-02-16 criteria provided, single submitter clinical testing
Invitae RCV001426472 SCV001629125 likely benign Hypertrophic cardiomyopathy 2023-10-18 criteria provided, single submitter clinical testing

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