ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335970 SCV001529236 uncertain significance Microcephaly and chorioretinopathy, autosomal recessive, 1 2018-05-30 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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