ClinVar Miner

Submissions for variant NM_003243.5(TGFBR3):c.55A>G (p.Thr19Ala)

gnomAD frequency: 0.00396  dbSNP: rs147586574
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Total submissions: 3
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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 RCV000660323 SCV000782372 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000893090 SCV001037005 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953223 SCV004771970 likely benign TGFBR3-related disorder 2019-02-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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