ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.936-9del

dbSNP: rs763127510
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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 RCV002084682 SCV002324768 benign DiGeorge syndrome 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978482 SCV004787328 likely benign TBX1-related disorder 2023-12-07 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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