ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) (rs113247976)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713410 SCV000288782 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303239 SCV000380458 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000424199 SCV000522280 benign not specified 2016-03-16 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625002 SCV000743473 likely benign Spastic paraplegia 10 2014-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713410 SCV000844011 benign not provided 2017-12-12 criteria provided, single submitter clinical testing

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