ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=)

gnomAD frequency: 0.00853  dbSNP: rs11829764
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147793 SCV000195264 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000147793 SCV000230299 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000147793 SCV000515402 benign not specified 2016-04-12 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.
Invitae RCV000972500 SCV001120213 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000972500 SCV001146570 benign not provided 2019-06-24 criteria provided, single submitter clinical testing

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