ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) (rs146364486)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464590 SCV000559028 likely benign not provided 2016-11-10 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173376 SCV001336464 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001443000 SCV001645959 likely benign Charcot-Marie-Tooth disease, type 2 2020-09-17 criteria provided, single submitter clinical testing

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