ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) (rs11121552)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117408 SCV000151605 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000262668 SCV000346745 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317736 SCV000346746 benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353894 SCV000346747 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117408 SCV000198455 benign not specified 2013-05-20 criteria provided, single submitter clinical testing The Thr1721Thr variant in KIF1B: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, has been identified in 30% (2585/8600) of Euro pean American chromosomes and 9% (413/4406) of African American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs11 121552).
PreventionGenetics RCV000117408 SCV000312358 benign not specified criteria provided, single submitter clinical testing

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