ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.226+10C>T

gnomAD frequency: 0.00078  dbSNP: rs199717430
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147804 SCV000195277 benign not specified 2015-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000714137 SCV000722094 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714137 SCV000844815 benign not provided 2018-02-14 criteria provided, single submitter clinical testing
Invitae RCV000714137 SCV001042865 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714137 SCV004130845 benign not provided 2022-03-01 criteria provided, single submitter clinical testing TUBA1A: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003927444 SCV004739844 likely benign TUBA1A-related condition 2020-03-12 criteria provided, single submitter 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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