Submissions for variant NM_000548.5(TSC2):c.3611-10G>A

gnomAD frequency: 0.00004  dbSNP: rs372045362

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125675	SCV000169137	benign	not specified	2014-05-02	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233141	SCV000285358	benign	Tuberous sclerosis 2	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000055465	SCV000395630	benign	Tuberous sclerosis 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.
Athena Diagnostics	RCV000125675	SCV001880087	benign	not specified	2021-03-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000233141	SCV002039347	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256037	SCV002533430	benign	Hereditary cancer-predisposing syndrome	2021-04-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV002262609	SCV002545715	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TSC2: BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000233141	SCV004016115	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000233141	SCV004018706	benign	Tuberous sclerosis 2	2023-07-06	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002262609	SCV004221439	benign	not provided	2021-03-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000055465	SCV004815791	benign	Tuberous sclerosis syndrome	2024-01-11	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000055465	SCV000083686	not provided	Tuberous sclerosis syndrome		no assertion provided	curation