ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1344T>C (p.His448=)

gnomAD frequency: 0.00008  dbSNP: rs549593465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533943 SCV000640999 likely benign Aortic aneurysm, familial thoracic 4 2023-10-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587301 SCV000697639 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384144 SCV002688788 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-02-20 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 RCV002384144 SCV004359449 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-11 criteria provided, single submitter clinical testing

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