Submissions for variant NM_001123385.2(BCOR):c.408C>T (p.Ala136=)

gnomAD frequency: 0.00258  dbSNP: rs139802143

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192752	SCV000246791	uncertain significance	not specified	2014-10-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000640959	SCV000762564	benign	Oculofaciocardiodental syndrome	2023-11-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000721076	SCV000851961	likely benign	History of neurodevelopmental disorder	2011-11-01	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.
Clinical Genetics, Academic Medical Center	RCV000192752	SCV001926134	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727625	SCV001969793	likely benign	not provided		no assertion criteria provided	clinical testing