ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1776G>A (p.Leu592=)

gnomAD frequency: 0.00001  dbSNP: rs1239338323
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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 RCV000772986 SCV000906368 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061075 SCV002390476 likely benign Aortic aneurysm, familial thoracic 4 2024-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772986 SCV002711893 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-24 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 RCV000772986 SCV004823643 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-02 criteria provided, single submitter clinical testing

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