ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)

dbSNP: rs762121866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253045 SCV001428563 uncertain significance Alagille syndrome due to a JAG1 point mutation 2018-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001253045 SCV003474193 likely benign Alagille syndrome due to a JAG1 point mutation 2022-10-10 criteria provided, single submitter clinical testing

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