ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2724C>T (p.His908=)

gnomAD frequency: 0.00002  dbSNP: rs765884543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242601 SCV000303020 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057324 SCV002446335 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-04 criteria provided, single submitter clinical testing

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