ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) (rs371737085)

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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 RCV000718270 SCV000849132 likely benign History of neurodevelopmental disorder 2017-02-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000712150 SCV000842574 likely benign not provided 2018-07-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117405 SCV000706877 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000117405 SCV000520024 likely benign not specified 2017-07-10 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 RCV000117405 SCV000151600 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
Invitae RCV000531585 SCV000638622 likely benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 2017-12-26 criteria provided, single submitter clinical testing

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