ClinVar Miner

Submissions for variant NM_005996.4(TBX3):c.1290C>T (p.Gly430=)

gnomAD frequency: 0.00045  dbSNP: rs369999628
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728903 SCV000856526 uncertain significance not provided 2017-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078992 SCV001044829 likely benign Ulnar-mammary syndrome 2024-05-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938099 SCV004748687 likely benign TBX3-related disorder 2022-10-04 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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