ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4122C>T (p.Ser1374=)

gnomAD frequency: 0.00001  dbSNP: rs377329568
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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 RCV001185011 SCV001351132 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001493012 SCV001697633 likely benign Aortic aneurysm, familial thoracic 4 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001185011 SCV002627154 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-27 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 RCV001185011 SCV004821251 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-17 criteria provided, single submitter clinical testing

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