ClinVar Miner

Submissions for variant NM_003243.5(TGFBR3):c.2329C>T (p.Pro777Ser)

gnomAD frequency: 0.00708  dbSNP: rs2228363
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Total submissions: 4
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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 RCV000660328 SCV000782377 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411567 SCV004124063 benign not provided 2023-08-01 criteria provided, single submitter clinical testing TGFBR3: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003918103 SCV004734673 likely benign TGFBR3-related disorder 2019-02-20 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).
Breakthrough Genomics, Breakthrough Genomics RCV003411567 SCV005258614 likely benign not provided criteria provided, single submitter not provided

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