ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1671G>A (p.Leu557=)

gnomAD frequency: 0.00007  dbSNP: rs149386750
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532488 SCV000623650 likely benign Hypertrophic cardiomyopathy 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620358 SCV000740217 likely benign Cardiovascular phenotype 2017-10-17 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 RCV000772097 SCV000905132 likely benign Cardiomyopathy 2018-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001597154 SCV001830865 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000772097 SCV002042255 likely benign Cardiomyopathy 2022-11-29 criteria provided, single submitter clinical testing

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