Submissions for variant NM_000548.5(TSC2):c.5161-9C>T

gnomAD frequency: 0.00094  dbSNP: rs45515893

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125700	SCV000169164	benign	not specified	2013-04-02	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.
Invitae	RCV000227417	SCV000285448	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125700	SCV000305242	benign	not specified	2016-03-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000043120	SCV000395677	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125700	SCV000711366	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	5161-9C>T in intron 40 of TSC2: This variant is not expected to have clinical si gnificance because it has been identified in 4.6% (9/194) of Han Chinese chromos omes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.ni h.gov/projects/SNP; dbSNP rs45515893).
Athena Diagnostics Inc	RCV000125700	SCV001880091	benign	not specified	2020-11-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000227417	SCV002039919	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000125700	SCV002070020	benign	not specified	2021-06-20	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000125700	SCV002774086	benign	not specified	2020-11-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114224	SCV003799666	benign	not provided	2022-11-29	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000227417	SCV004016105	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125700	SCV004100047	benign	not specified	2023-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000227417	SCV004360942	benign	Tuberous sclerosis 2	2022-09-21	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043120	SCV000066919	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000125700	SCV001973657	benign	not specified		no assertion criteria provided	clinical testing