ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.*1694C>T (rs3732339)

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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 RCV000302443 SCV000429112 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359560 SCV000429113 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266489 SCV000429114 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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