ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2114-18T>C

gnomAD frequency: 0.00003  dbSNP: rs766999933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674031 SCV001890041 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073149 SCV002466318 benign Alagille syndrome due to a JAG1 point mutation 2024-09-29 criteria provided, single submitter clinical testing

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