ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4479G>A (p.Gln1493=)

dbSNP: rs1638533963
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495267 SCV001699942 likely benign Charcot-Marie-Tooth disease type 2 2021-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037348 SCV002631025 likely benign not specified 2020-08-21 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.
PreventionGenetics, part of Exact Sciences RCV003956093 SCV004772272 likely benign KIF1B-related disorder 2022-04-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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