ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3900C>T (p.His1300=)

dbSNP: rs369328830
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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 RCV000925096 SCV001070625 likely benign not provided 2024-03-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923317 SCV004740101 likely benign TUBGCP6-related disorder 2019-09-12 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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