ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2733G>A (p.Val911=)

gnomAD frequency: 0.00001  dbSNP: rs200531561
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612470 SCV000729158 benign not specified 2017-09-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001190449 SCV001357942 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066679 SCV002372280 likely benign Aortic aneurysm, familial thoracic 4 2024-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190449 SCV003912548 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-01-20 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.
All of Us Research Program, National Institutes of Health RCV001190449 SCV004823540 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-06 criteria provided, single submitter clinical testing

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