ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.3804C>T (p.Ile1268=)

dbSNP: rs994141495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004049608 SCV002617723 likely benign not specified 2021-10-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775697 SCV004697179 likely benign Charcot-Marie-Tooth disease type 2 2024-09-19 criteria provided, single submitter clinical testing

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