ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1956A>G (p.Thr652=)

gnomAD frequency: 0.00001  dbSNP: rs753238525
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092824 SCV001249518 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183780 SCV001349605 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001499324 SCV001704086 likely benign Aortic aneurysm, familial thoracic 4 2024-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001183780 SCV002718367 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-22 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 RCV001183780 SCV004823614 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing

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