ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3302_3303inv (p.Val1101Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231267 SCV000287404 benign Hypertrophic cardiomyopathy 14 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621761 SCV000735637 likely benign Cardiovascular phenotype 2019-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001589180 SCV001825242 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29396286)

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