ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2502C>T (p.Thr834=)

gnomAD frequency: 0.00001  dbSNP: rs779052259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000476761 SCV001371029 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV002063676 SCV002374851 likely benign Alagille syndrome due to a JAG1 point mutation 2021-01-19 criteria provided, single submitter clinical testing

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