ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3199+13T>C

gnomAD frequency: 0.00002  dbSNP: rs762372882
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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 RCV002142599 SCV002442871 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704790 SCV005207355 likely benign not provided criteria provided, single submitter not provided

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