ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4533C>T (p.Ala1511=)

gnomAD frequency: 0.00021  dbSNP: rs181548582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535564 SCV000641042 likely benign Aortic aneurysm, familial thoracic 4 2024-12-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177342 SCV001341537 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001644647 SCV001859759 likely benign not provided 2020-03-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001177342 SCV002637180 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-04-22 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 RCV001177342 SCV004821203 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-18 criteria provided, single submitter clinical testing

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