Submissions for variant NM_003072.5(SMARCA4):c.4170+17C>T

dbSNP: rs145829956

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427939	SCV000519089	likely benign	not specified	2017-12-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514001	SCV000610889	likely benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Invitae	RCV002064949	SCV002462097	benign	Rhabdoid tumor predisposition syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328938	SCV002628394	likely benign	Hereditary cancer-predisposing syndrome	2015-08-12	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.
Fulgent Genetics, Fulgent Genetics	RCV002488906	SCV002801248	likely benign	Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16	2022-05-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514001	SCV004562277	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514001	SCV001741637	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000514001	SCV001806922	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514001	SCV001979870	likely benign	not provided		no assertion criteria provided	clinical testing