ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.969C>T (p.Phe323=)

gnomAD frequency: 0.00003  dbSNP: rs140735008
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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 RCV000918014 SCV001063311 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950852 SCV004774725 likely benign TUBGCP6-related disorder 2023-02-27 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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