ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.64T>C (p.Cys22Arg)

dbSNP: rs1555831004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592654 SCV000709627 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000592654 SCV004702276 likely pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing JAG1: PM2, PS2:Moderate, PP2, PS4:Supporting
Gilbert/Spinner Lab, Children's Hospital of Philadelphia RCV005002148 SCV005627993 not provided Arteriohepatic dysplasia no assertion provided research

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