Submissions for variant NM_001123385.2(BCOR):c.626C>T (p.Ser209Leu)

gnomAD frequency: 0.00072  dbSNP: rs143697110

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861482	SCV001001809	benign	Oculofaciocardiodental syndrome	2024-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019669	SCV005036872	benign	Inborn genetic diseases	2024-02-26	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.
ITMI	RCV000120213	SCV000084359	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573019	SCV001798286	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000120213	SCV001952857	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000120213	SCV001974419	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001573019	SCV001978762	likely benign	not provided		no assertion criteria provided	clinical testing