Submissions for variant NM_003072.5(SMARCA4):c.2275-3C>A

gnomAD frequency: 0.00243  dbSNP: rs117611401

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193996	SCV000248955	benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990148	SCV000262308	benign	Rhabdoid tumor predisposition syndrome 2	2025-02-04	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000193996	SCV000297029	benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345652	SCV000410484	benign	Coffin-Siris syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000436144	SCV000511656	likely benign	not provided	2016-11-22	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000436144	SCV000568031	likely benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28873162)
Ambry Genetics	RCV000564444	SCV000663884	likely benign	Hereditary cancer-predisposing syndrome	2018-11-23	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.
Mendelics	RCV000990148	SCV001140977	likely benign	Rhabdoid tumor predisposition syndrome 2	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000436144	SCV001151645	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	SMARCA4: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000436144	SCV001474232	likely benign	not provided	2019-12-09	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000436144	SCV002010715	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000193996	SCV002046767	benign	not specified	2021-03-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808538	SCV002056176	benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564444	SCV002532827	likely benign	Hereditary cancer-predisposing syndrome	2021-07-21	criteria provided, single submitter	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000436144	SCV001741448	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000436144	SCV001968128	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000436144	SCV001977634	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000436144	SCV002035166	likely benign	not provided		no assertion criteria provided	clinical testing