ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1014C>T (p.His338=)

dbSNP: rs199971175
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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 RCV002110221 SCV002436902 likely benign Alagille syndrome due to a JAG1 point mutation 2022-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553790 SCV004797673 likely benign JAG1-related disorder 2021-12-23 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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