ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1443C>T (p.Gly481=)

gnomAD frequency: 0.00002  dbSNP: rs879921003
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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) RCV000734815 SCV000862987 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001051725 SCV001215895 benign Alagille syndrome due to a JAG1 point mutation 2024-10-12 criteria provided, single submitter clinical testing

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