Submissions for variant NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)

gnomAD frequency: 0.00092  dbSNP: rs147318592

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177655	SCV000229557	likely benign	not specified	2015-04-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000198749	SCV000252830	benign	Charcot-Marie-Tooth disease type 2	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373531	SCV000346687	likely benign	Neuroblastoma	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173612	SCV001336712	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001706137	SCV002011656	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706137	SCV002506128	benign	not provided	2022-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000177655	SCV002613674	likely benign	not specified	2020-08-04	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	RCV001706137	SCV004128362	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KIF1B: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center	RCV000177655	SCV001920744	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706137	SCV001931467	likely benign	not provided		no assertion criteria provided	clinical testing