ClinVar Miner

Submissions for variant NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp)

dbSNP: rs2118780957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269683 SCV002553006 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002496209 SCV002785182 uncertain significance Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 2021-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002269683 SCV004158450 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing TGFBR1: PM2

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