ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)

gnomAD frequency: 0.00002  dbSNP: rs552529704
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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 RCV001173587 SCV001336686 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067855 SCV002333237 likely benign Charcot-Marie-Tooth disease type 2 2024-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032960 SCV002630402 likely benign not specified 2022-01-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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