ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.63C>T (p.Ile21=)

gnomAD frequency: 0.00002  dbSNP: rs755935176
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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 RCV000559591 SCV000641084 likely benign Aortic aneurysm, familial thoracic 4 2023-10-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176067 SCV001339901 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-29 criteria provided, single submitter clinical testing
GeneDx RCV001653898 SCV001866917 likely benign not provided 2021-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176067 SCV002658855 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-30 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.
All of Us Research Program, National Institutes of Health RCV001176067 SCV004816900 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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