ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2948del (p.Glu982_Leu983insTer)

dbSNP: rs863223675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196035 SCV000250490 pathogenic not provided 2013-12-03 criteria provided, single submitter clinical testing The c.2948delT mutation in the JAG1 gene creates a premature Stop codon at position 983, denoted p.Leu983Stop (L983X). Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Alagille syndrome .The c.2948delT mutation in the JAG1 gene creates a premature Stop codon at position 983, denoted p.Leu983Stop (L983X). This variant was found in JAG1

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