ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) (rs77172218)

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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 RCV000233454 SCV000346727 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264180 SCV000346728 likely benign Neuroblastoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319323 SCV000346729 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233454 SCV000290043 benign Charcot-Marie-Tooth disease, type 2 2018-01-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241555 SCV000312357 benign not specified criteria provided, single submitter clinical testing

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