ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) (rs200858074)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872287 SCV001014080 likely benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173383 SCV001336471 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001446091 SCV001649133 likely benign Charcot-Marie-Tooth disease, type 2 2020-01-07 criteria provided, single submitter clinical testing

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