ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.510T>C (p.Ser170=)

gnomAD frequency: 0.02931  dbSNP: rs112023543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147811 SCV000169670 benign not specified 2014-03-31 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.
Genetic Services Laboratory, University of Chicago RCV000147811 SCV000195284 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV002055627 SCV002402621 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975112 SCV004792750 benign TUBA1A-related condition 2019-07-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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