ClinVar Miner

Submissions for variant NM_005996.4(TBX3):c.1208G>A (p.Arg403Gln)

gnomAD frequency: 0.00105  dbSNP: rs145432134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591648 SCV000704953 likely benign not specified 2017-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451117 SCV001654739 likely benign Ulnar-mammary syndrome 2023-10-17 criteria provided, single submitter clinical testing
Dash Lab, University Health Network RCV000754972 SCV000803291 benign Obesity 2018-05-01 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003980087 SCV004790636 likely benign TBX3-related disorder 2021-08-02 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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