ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4753-20C>A

gnomAD frequency: 0.00436  dbSNP: rs192598799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173618 SCV001336718 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068089 SCV002464250 benign Charcot-Marie-Tooth disease type 2 2025-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491489 SCV002796587 likely benign Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1 2022-04-05 criteria provided, single submitter clinical testing

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