ClinVar Miner

Submissions for variant NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met) (rs139572764)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000592018 SCV000707359 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV000592018 SCV001007966 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173604 SCV001336704 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001393026 SCV001594676 likely benign Charcot-Marie-Tooth disease, type 2 2020-03-26 criteria provided, single submitter clinical testing

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