Submissions for variant NM_003073.5(SMARCB1):c.362+7C>T

gnomAD frequency: 0.00815  dbSNP: rs34746244

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000588573	SCV000287850	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295652	SCV000437513	benign	Rhabdoid tumor predisposition syndrome 1	2018-01-13	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.
Illumina Laboratory Services, Illumina	RCV000334379	SCV000437514	benign	Schwannomatosis 1	2018-01-13	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.
GeneDx	RCV000435723	SCV000518978	likely benign	not specified	2017-08-07	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588573	SCV000698155	benign	not provided	2016-05-25	criteria provided, single submitter	clinical testing	Variant summary: The SMARCB1 c.362+7C>T variant involves the alteration of a non-conserved intronic nucleotide. 5/5 splice tools predicting the variant not to have an impact on normal splicing. This variant was found in 319/121310 control chromosomes (including 1 homozygote), predominantly observed in the African subpopulation at a frequency of 0.0251251 (261/10388). This frequency greatly exceeds the estimated maximal expected allele frequency of a pathogenic SMARCB1 variant (0.0000001), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. Taken together, this variant is classified as Benign.
Genetic Services Laboratory, University of Chicago	RCV000435723	SCV002070834	benign	not specified	2021-11-23	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000295652	SCV004015525	benign	Rhabdoid tumor predisposition syndrome 1	2023-07-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000588573	SCV004562063	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing