ClinVar Miner

Submissions for variant NM_006086.4(TUBB3):c.1287G>A (p.Thr429=)

gnomAD frequency: 0.00046  dbSNP: rs142238093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194746 SCV000249308 uncertain significance not specified 2015-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000194746 SCV000522974 likely benign not specified 2016-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000891842 SCV001035681 benign not provided 2023-11-02 criteria provided, single submitter clinical testing

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