ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.301_302del (p.Ile101fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003494070 SCV004242444 likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2023-12-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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