ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1263T>C (p.Cys421=)

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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 RCV002872289 SCV003239945 benign Alagille syndrome due to a JAG1 point mutation 2022-09-29 criteria provided, single submitter clinical testing

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