ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3000C>T (p.Ile1000=)

dbSNP: rs373759023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078069 SCV002325616 likely benign Alagille syndrome due to a JAG1 point mutation 2023-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553650 SCV004766457 likely benign JAG1-related disorder 2024-02-21 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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