ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.204G>T (p.Ala68=) (rs141052770)

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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 RCV000716390 SCV000847230 likely benign History of neurodevelopmental disorder 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000710153 SCV000613902 likely benign not provided 2017-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500342 SCV000595396 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364235 SCV000429325 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276700 SCV000429326 uncertain significance Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334051 SCV000429327 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537975 SCV000638545 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-12-29 criteria provided, single submitter clinical testing

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