ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3198C>T (p.Asp1066=)

dbSNP: rs757270167
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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 RCV001177217 SCV001341392 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001177217 SCV002610806 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559719 SCV003490179 likely benign Aortic aneurysm, familial thoracic 4 2024-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230640 SCV003929117 likely benign not specified 2023-04-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001177217 SCV004821355 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-02-24 criteria provided, single submitter clinical testing

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