ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) (rs140015591)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000199541 SCV000346649 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384860 SCV000346650 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293085 SCV000346651 uncertain significance Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000199541 SCV000253526 likely benign Charcot-Marie-Tooth disease, type 2 2017-05-24 criteria provided, single submitter clinical testing

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