ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.*2257C>T (rs11547136)

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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 RCV000400894 SCV000429085 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280079 SCV000429086 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337430 SCV000429087 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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