ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) (rs35663732)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716003 SCV000846836 benign History of neurodevelopmental disorder 2016-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000117391 SCV000170013 benign not specified 2014-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000117391 SCV000151588 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000283132 SCV000429289 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321685 SCV000429290 likely benign Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383336 SCV000429291 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541923 SCV000638537 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-08-08 criteria provided, single submitter clinical testing

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