Submissions for variant NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)

gnomAD frequency: 0.00287  dbSNP: rs76525703

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000390652	SCV000335169	benign	not specified	2015-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633084	SCV000754296	benign	Spastic paraplegia	2023-12-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001561554	SCV001784180	likely benign	not provided	2022-09-16	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002338831	SCV002619121	benign	Inborn genetic diseases	2017-06-30	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.
Fulgent Genetics, Fulgent Genetics	RCV002487201	SCV002802641	likely benign	Syndromic X-linked intellectual disability Claes-Jensen type	2021-08-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967722	SCV004778897	benign	KDM5C-related disorder	2019-09-24	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).