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

gnomAD frequency: 0.00028  dbSNP: rs374263753

Total submissions: 4

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).