ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5742C>T (p.Asn1914=)

gnomAD frequency: 0.00004  dbSNP: rs146391904
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001178167 SCV000319795 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-06-29 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.
Color Diagnostics, LLC DBA Color Health RCV001178167 SCV001342543 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501687 SCV001706503 likely benign Aortic aneurysm, familial thoracic 4 2024-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000552427 SCV001776868 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV001178167 SCV004815493 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-13 criteria provided, single submitter clinical testing

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