ClinVar Miner

Submissions for variant NM_004608.4(TBX6):c.1149G>A (p.Ser383=)

gnomAD frequency: 0.00186  dbSNP: rs201140031
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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 RCV000901963 SCV001046362 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000901963 SCV004146223 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing TBX6: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003922985 SCV004745299 likely benign TBX6-related disorder 2019-09-17 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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