ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466878 SCV002761733 pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2022-08-05 criteria provided, single submitter clinical testing

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