ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3560A>G (p.Asn1187Ser)

gnomAD frequency: 0.00004  dbSNP: rs755420729
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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) RCV000595898 SCV000704643 uncertain significance not provided 2016-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860182 SCV002196600 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-18 criteria provided, single submitter clinical testing

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