Submissions for variant NM_004187.5(KDM5C):c.2517-9_2517-7dup

dbSNP: rs398124111

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000080874	SCV000247684	likely benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229405	SCV000288162	benign	Spastic paraplegia	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000080874	SCV001144363	benign	not specified	2019-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001530028	SCV001893555	benign	not provided	2018-09-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426643	SCV002742545	benign	Inborn genetic diseases	2014-09-29	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Eurofins Ntd Llc (ga)	RCV000080874	SCV000112776	benign	not specified	2013-08-30	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530028	SCV001744533	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001530028	SCV001800333	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530028	SCV001929983	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004748563	SCV005352361	benign	KDM5C-related disorder	2024-05-20	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).