ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.1217+14_1217+283del

dbSNP: rs1844616530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196222 SCV001366772 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2019-09-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BS2.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069278 SCV002330584 likely benign not provided 2022-11-14 criteria provided, single submitter clinical testing

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