ClinVar Miner

Submissions for variant NM_003243.5(TGFBR3):c.935T>C (p.Met312Thr)

gnomAD frequency: 0.00056  dbSNP: rs149079126
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ClinVar version:
Total submissions: 2
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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 RCV000680617 SCV000808047 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000881957 SCV001025165 benign not provided 2018-11-15 criteria provided, single submitter clinical testing

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