ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4728C>T (p.Phe1576=)

dbSNP: rs765435868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182513 SCV001347979 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559030 SCV003012642 likely benign Aortic aneurysm, familial thoracic 4 2024-12-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001182513 SCV004821185 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182513 SCV005139136 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-17 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.

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