ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.225T>C (p.Phe75=)

dbSNP: rs777670358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000894910 SCV001038925 likely benign not provided 2025-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950449 SCV004758883 likely benign TUBGCP6-related disorder 2020-12-21 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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