Submissions for variant NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)

gnomAD frequency: 0.00043  dbSNP: rs142595337

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174383	SCV000225674	uncertain significance	not provided	2014-10-28	criteria provided, single submitter	clinical testing
Invitae	RCV001078522	SCV001006059	benign	Oculofaciocardiodental syndrome	2022-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336422	SCV002638294	likely benign	Inborn genetic diseases	2019-08-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003927596	SCV004746985	likely benign	BCOR-related condition	2019-09-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000174383	SCV001799410	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174383	SCV001970427	uncertain significance	not provided		no assertion criteria provided	clinical testing