ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.954C>T (p.Asp318=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005078824 SCV005707496 benign Alagille syndrome due to a JAG1 point mutation 2024-02-28 criteria provided, single submitter clinical testing

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