ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) (rs758864131)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756780 SCV000884690 likely benign not provided 2017-06-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756780 SCV001246042 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing
Color RCV001180342 SCV001345251 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-18 criteria provided, single submitter clinical testing

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