ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) (rs116089798)

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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 RCV000321434 SCV000346706 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000459362 SCV000346707 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267690 SCV000346708 likely benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459362 SCV000559030 benign Charcot-Marie-Tooth disease, type 2 2017-12-27 criteria provided, single submitter clinical testing

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