ClinVar Miner

Submissions for variant NM_004608.4(TBX6):c.585C>T (p.Val195=)

gnomAD frequency: 0.00065  dbSNP: rs148435229
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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) RCV000307045 SCV000340998 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000307045 SCV001028943 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000307045 SCV001747156 uncertain significance not provided 2021-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949893 SCV004771318 likely benign TBX6-related disorder 2020-01-24 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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