ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.849C>T (p.Ser283=) (rs187442951)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717629 SCV000848482 likely benign History of neurodevelopmental disorder 2016-04-20 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)
Genetic Services Laboratory, University of Chicago RCV000193375 SCV000247738 uncertain significance not specified 2015-05-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328663 SCV000429307 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380681 SCV000429308 uncertain significance Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288810 SCV000429309 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000554087 SCV000638641 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-12-21 criteria provided, single submitter clinical testing

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