ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.*552G>A (rs866854968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000384159 SCV000429142 uncertain significance Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282824 SCV000429143 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321909 SCV000429144 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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