ClinVar Miner

Submissions for variant NM_001613.4(ACTA2):c.612T>C (p.Thr204=)

dbSNP: rs1554841258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000585774 SCV000693697 likely benign Connective tissue disorder 2015-08-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420892 SCV001623328 likely benign not specified 2021-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532139 SCV001747554 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024665 SCV004920575 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091529 SCV005807610 likely benign Aortic aneurysm, familial thoracic 6 2024-04-01 criteria provided, single submitter clinical testing

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