Submissions for variant NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del)

dbSNP: rs113070757

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194391	SCV000248944	likely benign	not specified	2015-07-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513731	SCV000610423	likely benign	not provided	2017-08-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315506	SCV000848431	likely benign	Inborn genetic diseases	2018-10-07	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.
GeneDx	RCV000513731	SCV001907122	benign	not provided	2018-11-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000513731	SCV002466122	likely benign	not provided	2022-07-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513731	SCV002564030	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SMARCA2: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000513731	SCV001741258	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000513731	SCV001799795	likely benign	not provided		no assertion criteria provided	clinical testing