Submissions for variant NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)

dbSNP: rs35353912

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723741	SCV000112773	uncertain significance	not provided	2014-12-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000192004	SCV000151561	uncertain significance	not specified	2015-02-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086548	SCV000288161	benign	Spastic paraplegia	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313770	SCV000848553	likely benign	Inborn genetic diseases	2016-03-13	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.
GeneDx	RCV000723741	SCV001832987	benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723741	SCV001927706	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723741	SCV001963857	likely benign	not provided		no assertion criteria provided	clinical testing