ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.1639+10C>T (rs3753037)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000402526 SCV000346613 benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305524 SCV000346614 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341720 SCV000346615 benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154624 SCV000204298 benign not specified 2013-05-20 criteria provided, single submitter clinical testing The 1639+10C_T 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% (2553/8600) of Euro pean American chromosomes and 26% (820/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs3 753037).
PreventionGenetics RCV000154624 SCV000312353 benign not specified criteria provided, single submitter clinical testing

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