ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4515C>G (p.Thr1505=)

gnomAD frequency: 0.00001  dbSNP: rs140395834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189463 SCV001356757 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-01 criteria provided, single submitter clinical testing
Invitae RCV001447350 SCV001650413 likely benign Aortic aneurysm, familial thoracic 4 2023-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001189463 SCV002635147 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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