ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.42C>A (p.Ala14=)

dbSNP: rs146878404
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000895949 SCV001040018 benign not provided 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000895949 SCV001801020 likely benign not provided 2020-03-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818708 SCV002070872 likely benign not specified 2019-10-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000895949 SCV002821139 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TUBGCP6: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003920839 SCV004728911 likely benign TUBGCP6-related condition 2019-09-26 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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