ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.886+19A>T

gnomAD frequency: 0.00226  dbSNP: rs200311847
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242845 SCV000303037 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513289 SCV001720882 benign Alagille syndrome due to a JAG1 point mutation 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001640474 SCV001861057 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000242845 SCV001923820 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000242845 SCV001931280 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001640474 SCV001963286 likely benign not provided no assertion criteria provided clinical testing

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