ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu)

gnomAD frequency: 0.00019  dbSNP: rs137934849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504314 SCV000597764 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891845 SCV001035684 likely benign not provided 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524326 SCV003586469 likely benign Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003935317 SCV004753964 likely benign TUBGCP6-related disorder 2022-03-28 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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