Submissions for variant NM_001123385.2(BCOR):c.1650C>T (p.Thr550=)

gnomAD frequency: 0.00806  dbSNP: rs17145653

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081810	SCV000113745	benign	not specified	2012-11-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081810	SCV000150431	benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000081810	SCV000518983	benign	not specified	2015-12-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000472235	SCV000563096	benign	Oculofaciocardiodental syndrome	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316259	SCV000851857	likely benign	Inborn genetic diseases	2016-05-06	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.
Breakthrough Genomics, Breakthrough Genomics	RCV004703230	SCV005209250	likely benign	not provided		criteria provided, single submitter	not provided