ClinVar Miner

Submissions for variant NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)

dbSNP: rs1599893542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990219 SCV001141090 likely pathogenic Diaphyseal dysplasia 2019-05-28 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000990219 SCV001736854 likely pathogenic Diaphyseal dysplasia 2020-12-07 criteria provided, single submitter clinical testing

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