ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5448C>T (p.Ile1816=)

gnomAD frequency: 0.00001  dbSNP: rs201308235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950978 SCV001097325 likely benign Aortic aneurysm, familial thoracic 4 2023-04-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184065 SCV001349937 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184065 SCV004815535 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184065 SCV005019063 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-03-13 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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