ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5664A>G (p.Gln1888=)

gnomAD frequency: 0.00002  dbSNP: rs540350007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000629131 SCV000750047 likely benign Hypertrophic cardiomyopathy 2023-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343192 SCV002652081 likely benign Cardiovascular phenotype 2020-09-30 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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