ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1503C>T (p.Arg501=)

gnomAD frequency: 0.00003  dbSNP: rs776843079
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424172 SCV000521779 likely benign not specified 2015-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769676 SCV000901088 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-10-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769676 SCV001356073 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001241823 SCV001414872 likely benign Aortic aneurysm, familial thoracic 4 2024-11-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000769676 SCV004816780 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769676 SCV005455980 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-08-15 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.

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