ClinVar Miner

Submissions for variant NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) (rs143037290)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000176875 SCV000247722 likely benign not specified 2015-06-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176875 SCV000334700 benign not specified 2015-09-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415745 SCV000493424 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000176875 SCV000513407 likely benign not specified 2017-08-17 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.
Invitae RCV001084426 SCV000638569 benign Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715995 SCV000846828 likely benign History of neurodevelopmental disorder 2019-03-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Mendelics RCV000987072 SCV001136265 likely benign Spastic paraplegia 30, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000415745 SCV001144372 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000176875 SCV001158853 benign not specified 2019-01-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987072 SCV001296759 uncertain significance Spastic paraplegia 30, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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