ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2976G>A (p.Leu992=)

gnomAD frequency: 0.00002  dbSNP: rs368728770
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Total submissions: 4
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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 RCV000218534 SCV000270456 likely benign not specified 2014-12-16 criteria provided, single submitter clinical testing p.Leu992Leu in exon 24 of MYH7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/67700 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs368728770).
Color Diagnostics, LLC DBA Color Health RCV001186884 SCV001353480 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Invitae RCV001434548 SCV001637358 likely benign Hypertrophic cardiomyopathy 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433927 SCV002751361 likely benign Cardiovascular phenotype 2021-08-31 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.

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