ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr)

dbSNP: rs1422096763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500355 SCV000597759 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329146 SCV001520486 uncertain significance Microcephaly and chorioretinopathy 1 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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