ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3699C>T (p.Asn1233=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002346771 SCV002621460 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-14 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 RCV002346771 SCV004359384 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003775707 SCV004684547 likely benign Aortic aneurysm, familial thoracic 4 2024-01-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002346771 SCV004816428 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-09-18 criteria provided, single submitter clinical testing

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