ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5328G>A (p.Glu1776=)

gnomAD frequency: 0.00002  dbSNP: rs773366562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712705 SCV000732549 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066880 SCV002449918 likely benign Aortic aneurysm, familial thoracic 4 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343169 SCV002640787 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-03 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 RCV002343169 SCV004816423 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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