ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3261G>A (p.Leu1087=)

gnomAD frequency: 0.00004  dbSNP: rs371937608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245376 SCV000319625 likely benign Cardiovascular phenotype 2015-05-21 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.
Invitae RCV000862967 SCV001003548 likely benign Hypertrophic cardiomyopathy 2024-01-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183745 SCV001349561 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing

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