ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4146C>T (p.Asp1382=)

dbSNP: rs761097049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190026 SCV001357437 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560070 SCV002962359 likely benign Aortic aneurysm, familial thoracic 4 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190026 SCV004001218 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-11 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.

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