ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.435C>A (p.Thr145=)

dbSNP: rs747879633
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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 RCV001432704 SCV001635481 likely benign Alagille syndrome due to a JAG1 point mutation 2022-03-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526039 SCV005040575 likely benign not specified 2024-03-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549940 SCV004743232 likely benign JAG1-related disorder 2020-01-02 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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