ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2115+6313G>A

gnomAD frequency: 0.00028  dbSNP: rs374263753
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237613 SCV002010987 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003237613 SCV004128352 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing KIF1B: PP2, PP3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003237613 SCV004563214 uncertain significance not provided 2023-06-15 criteria provided, single submitter clinical testing The KIF1B c.2374G>A; p.Val792Ile variant (rs374263753), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1319619). This variant is observed in the general population with an overall allele frequency of 0.03% (76/282160 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.343). Due to limited information, the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences RCV003968545 SCV004781702 likely benign KIF1B-related disorder 2022-10-18 criteria provided, single submitter 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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