ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys)

gnomAD frequency: 0.00014  dbSNP: rs754226097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238249 SCV002011651 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857085 SCV000999658 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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