ClinVar Miner

Submissions for variant NM_001109878.2(TBX22):c.780G>A (p.Thr260=)

gnomAD frequency: 0.00012  dbSNP: rs373817537
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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 RCV000931022 SCV001076684 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV002249577 SCV002516065 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960481 SCV004772537 likely benign TBX22-related disorder 2019-07-11 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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