ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1349-8dup

dbSNP: rs767319365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513535 SCV001721167 benign Alagille syndrome due to a JAG1 point mutation 2024-10-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151335 SCV003839629 likely benign not specified 2022-11-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004550284 SCV004747999 likely benign JAG1-related disorder 2019-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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