ClinVar Miner

Submissions for variant NM_001069.3(TUBB2A):c.96C>T (p.Pro32=)

gnomAD frequency: 0.00013  dbSNP: rs376336514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617907 SCV001846130 benign not provided 2020-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956298 SCV004784317 likely benign TUBB2A-related disorder 2020-02-05 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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