ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.357G>A (p.Val119=)

gnomAD frequency: 0.00040  dbSNP: rs34174718
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725127 SCV000334303 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000725127 SCV000524851 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Invitae RCV000725127 SCV001048285 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725127 SCV004143635 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing TUBB3: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003967718 SCV004779183 likely benign TUBB3-related condition 2020-03-04 criteria provided, single submitter 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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