ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2663A>G (p.Lys888Arg)

gnomAD frequency: 0.00032  dbSNP: rs147600470
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864546 SCV001005357 likely benign Charcot-Marie-Tooth disease type 2 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027626 SCV002739236 likely benign not specified 2020-08-19 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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