ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs)

dbSNP: rs1555827650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000627057 SCV000747765 pathogenic Arteriohepatic dysplasia 2018-01-15 criteria provided, single submitter clinical testing This de novo variant in JAG1 was identified in a very young patient with neonatal cholestasis and suspected Alagille syndrome

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