Submissions for variant NM_003072.5(SMARCA4):c.2617-4G>A

gnomAD frequency: 0.00002  dbSNP: rs201020451

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227487	SCV000286026	benign	Rhabdoid tumor predisposition syndrome 2	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562584	SCV000664087	benign	Hereditary cancer-predisposing syndrome	2019-05-22	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.
Genome-Nilou Lab	RCV001808609	SCV002057075	benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000562584	SCV002532854	benign	Hereditary cancer-predisposing syndrome	2021-08-25	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477802	SCV004220411	benign	not provided	2023-09-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955319	SCV004778466	likely benign	SMARCA4-related disorder	2023-01-19	no assertion criteria provided	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).