ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.105C>T (p.Phe35=)

gnomAD frequency: 0.00003  dbSNP: rs765442930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456850 SCV000557604 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001637039 SCV001849544 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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