ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1859G>T (p.Gly620Val)

dbSNP: rs752105789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002210932 SCV002496143 uncertain significance Alagille syndrome due to a JAG1 point mutation 2022-01-20 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3,BP1

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