ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=)

gnomAD frequency: 0.00001  dbSNP: rs193922663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428284 SCV000521714 likely benign not specified 2015-12-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428284 SCV000698192 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Invitae RCV002054525 SCV002362539 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-03-02 criteria provided, single submitter clinical testing

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