ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.135G>T (p.Val45=)

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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 RCV003815032 SCV004618070 likely benign Alagille syndrome due to a JAG1 point mutation 2023-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548698 SCV004769326 likely benign JAG1-related disorder 2023-06-20 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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