ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4947-13C>G

dbSNP: rs1638826414
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172599 SCV001335662 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093728 SCV005785670 likely benign Charcot-Marie-Tooth disease type 2 2024-10-07 criteria provided, single submitter clinical testing

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