ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.330G>A (p.Ala110=)

gnomAD frequency: 0.00010  dbSNP: rs535819460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762828 SCV001988745 benign not provided 2021-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001762828 SCV003466206 benign not provided 2024-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551995 SCV004720320 likely benign TUBB3-related disorder 2019-06-17 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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