ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3711C>T (p.Ala1237=)

gnomAD frequency: 0.00001  dbSNP: rs576890377
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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 RCV001191716 SCV001359613 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069166 SCV002349260 likely benign Aortic aneurysm, familial thoracic 4 2024-09-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001191716 SCV004821311 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001191716 SCV005019016 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-25 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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