ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.288A>G (p.Lys96=)

gnomAD frequency: 0.45696  dbSNP: rs1056875
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147806 SCV000195279 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147806 SCV000311344 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000147806 SCV000336673 benign not specified 2015-10-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714138 SCV000844816 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000714138 SCV001093627 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000714138 SCV001940484 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243814 SCV002514024 benign Lissencephaly due to TUBA1A mutation 2021-12-05 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000147806 SCV001959814 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000147806 SCV001966646 benign not specified no assertion criteria provided clinical testing

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