ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.2674+13C>T (rs116600932)

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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 RCV000362202 SCV000429262 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270001 SCV000429263 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334092 SCV000429264 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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