Submissions for variant NM_001123385.2(BCOR):c.1260T>C (p.Asp420=)

gnomAD frequency: 0.91469  dbSNP: rs5917933

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081809	SCV000113744	benign	not specified	2014-03-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081809	SCV000306681	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000607441	SCV001717163	benign	Oculofaciocardiodental syndrome	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000607441	SCV001775208	benign	Oculofaciocardiodental syndrome	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001647061	SCV001857462	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433591	SCV002678733	benign	Inborn genetic diseases	2015-06-22	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.
Breakthrough Genomics, Breakthrough Genomics	RCV001647061	SCV005276151	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081809	SCV000150430	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607441	SCV000734781	benign	Oculofaciocardiodental syndrome		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081809	SCV001927035	benign	not specified		no assertion criteria provided	clinical testing