Submissions for variant NM_003072.5(SMARCA4):c.1419+9C>T

gnomAD frequency: 0.00128  dbSNP: rs374635008

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000990147	SCV000285989	benign	Rhabdoid tumor predisposition syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326927	SCV000410472	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.
Genetic Services Laboratory, University of Chicago	RCV000503035	SCV000597185	likely benign	not specified	2016-12-16	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514649	SCV000610504	benign	not provided	2017-03-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000503035	SCV000729729	likely benign	not specified	2017-08-25	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.
Mendelics	RCV000990147	SCV001140976	benign	Rhabdoid tumor predisposition syndrome 2	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808595	SCV002057054	benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257541	SCV002534560	benign	Hereditary cancer-predisposing syndrome	2020-11-18	criteria provided, single submitter	curation
Ambry Genetics	RCV002257541	SCV002698541	likely benign	Hereditary cancer-predisposing syndrome	2015-07-23	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.
Fulgent Genetics, Fulgent Genetics	RCV002494634	SCV002802304	likely benign	Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16	2021-08-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514649	SCV003800391	likely benign	not provided	2022-12-23	criteria provided, single submitter	clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000514649	SCV003842304	likely benign	not provided	2023-03-21	criteria provided, single submitter	clinical testing	This variant has been identified by standard clinical testing.
CeGaT Center for Human Genetics Tuebingen	RCV000514649	SCV004139552	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SMARCA4: BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514649	SCV002036636	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514649	SCV002038013	likely benign	not provided		no assertion criteria provided	clinical testing