ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.789+1G>T

dbSNP: rs2135904919
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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 RCV001823032 SCV002072549 likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2022-01-18 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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