ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) (rs193922665)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030550 SCV000053221 likely pathogenic Loeys-Dietz syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Color Health, Inc RCV001179055 SCV001343636 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-03-09 criteria provided, single submitter clinical testing

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