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: 3
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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
Invitae RCV001513531 SCV001721163 benign Alagille syndrome due to a JAG1 point mutation 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001689784 SCV001910654 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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