ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4920G>A (p.Arg1640=)

gnomAD frequency: 0.00001  dbSNP: rs199638486
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000777866 SCV000319254 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-10-27 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.
Color Diagnostics, LLC DBA Color Health RCV000777866 SCV000913872 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001429952 SCV001632673 likely benign Aortic aneurysm, familial thoracic 4 2024-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001546206 SCV001765685 likely benign not provided 2020-03-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000777866 SCV003837932 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000777866 SCV004821158 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689696 SCV005185485 benign not specified 2024-05-06 criteria provided, single submitter clinical testing

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