ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.705C>T (p.Asn235=)

gnomAD frequency: 0.00024  dbSNP: rs149453540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861074 SCV001001289 benign DiGeorge syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001712798 SCV001942660 likely benign not provided 2020-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001712798 SCV004152115 benign not provided 2023-03-01 criteria provided, single submitter clinical testing TBX1: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004742656 SCV005352929 likely benign TBX1-related disorder 2024-08-22 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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