ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5187C>T (p.Asp1729=)

gnomAD frequency: 0.00003  dbSNP: rs145101141
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774101 SCV000907801 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001045 SCV001158165 likely benign Aortic aneurysm, familial thoracic 4 2019-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001001045 SCV001658768 likely benign Aortic aneurysm, familial thoracic 4 2024-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774101 SCV002643742 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-02 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 RCV000774101 SCV004821127 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing

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