ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.1145T>C (p.Ile382Thr)

dbSNP: rs1589597598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994477 SCV001148044 likely pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001838339 SCV002098062 uncertain significance Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 2022-02-22 criteria provided, single submitter clinical testing

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