Submissions for variant NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys)

gnomAD frequency: 0.00066  dbSNP: rs140506776

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000239290	SCV000297149	benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313966	SCV000848836	benign	Inborn genetic diseases	2017-01-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862765	SCV001003316	benign	Spastic paraplegia	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001610545	SCV001833167	benign	not provided	2019-04-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001610545	SCV001927797	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001610545	SCV001974203	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909875	SCV004720334	likely benign	KDM5C-related disorder	2021-06-06	no assertion criteria provided	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).