ClinVar Miner

Submissions for variant NM_014444.5(TUBGCP4):c.522-9T>A

gnomAD frequency: 0.00006  dbSNP: rs376435130
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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 RCV001511509 SCV001718771 benign not provided 2024-10-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956138 SCV004767627 likely benign TUBGCP4-related disorder 2023-06-08 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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