Submissions for variant NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=)

gnomAD frequency: 0.00481  dbSNP: rs116302604

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000381867	SCV000336746	benign	not specified	2015-11-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553082	SCV000657743	benign	Charcot-Marie-Tooth disease type 2	2025-01-27	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173619	SCV001336719	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000381867	SCV002622333	likely benign	not specified	2020-08-11	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.
CeGaT Center for Human Genetics Tuebingen	RCV001701838	SCV005041863	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	KIF1B: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001701838	SCV005287633	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701838	SCV001930617	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701838	SCV001954743	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930094	SCV004748506	benign	KIF1B-related disorder	2019-06-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).