ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2573-16C>T

gnomAD frequency: 0.00608  dbSNP: rs112196689
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250317 SCV000303016 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513531 SCV001721163 benign Alagille syndrome due to a JAG1 point mutation 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001689784 SCV001910654 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250317 SCV005204772 benign not specified 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689784 SCV005207359 likely benign not provided criteria provided, single submitter not provided

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