ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3573A>C (p.Thr1191=)

gnomAD frequency: 0.00001  dbSNP: rs762774678
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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 RCV001953365 SCV002220814 likely benign Alagille syndrome due to a JAG1 point mutation 2023-03-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704666 SCV005207351 likely benign not provided criteria provided, single submitter not provided

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