ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.1977+6213G>T (rs587777883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143826 SCV000188721 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Genesis Genome Database RCV000857072 SCV000999645 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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