ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)

gnomAD frequency: 0.00001  dbSNP: rs572314710
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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 RCV001173384 SCV001336472 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559662 SCV003009063 likely benign Charcot-Marie-Tooth disease type 2 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032950 SCV003861282 likely benign not specified 2023-02-09 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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