ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.285C>G (p.Ala95=) (rs12402052)

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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 RCV000117406 SCV000151603 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 RCV000355892 SCV000346243 benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275235 SCV000346244 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311574 SCV000346245 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117406 SCV000204297 benign not specified 2013-05-20 criteria provided, single submitter clinical testing The Ala95Ala variant in KIF1B: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 30% (2553/8600) of Europe an American chromosomes and 9% (403/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1240 2052).
PreventionGenetics RCV000117406 SCV000312355 benign not specified criteria provided, single submitter clinical testing

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