ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.4-7C>T

gnomAD frequency: 0.00053  dbSNP: rs560491477
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147808 SCV000195281 uncertain significance Lissencephaly due to TUBA1A mutation 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000727043 SCV000521809 benign not provided 2020-01-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727043 SCV000705110 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Invitae RCV000727043 SCV001056759 benign not provided 2023-12-13 criteria provided, single submitter clinical testing

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