ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.694+1G>T

gnomAD frequency: 0.00001  dbSNP: rs876660979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730398 SCV000858131 pathogenic not provided 2017-11-13 criteria provided, single submitter clinical testing
Genomics And Bioinformatics Analysis Resource, Columbia University RCV003319417 SCV004024098 likely pathogenic Alagille syndrome due to a JAG1 point mutation no assertion criteria provided research

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