Submissions for variant NM_000548.5(TSC2):c.2546-12C>T

gnomAD frequency: 0.21707  dbSNP: rs13331451

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152158	SCV000200861	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	2546-12C>T in intron 22 of TSC2: This variant is not expected to have clinical s ignificance because it has been identified in 47.9% (2106/4396) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs13331451).
Eurofins Ntd Llc (ga)	RCV000152158	SCV000228021	benign	not specified	2014-10-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152158	SCV000305178	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042472	SCV000395613	benign	Tuberous sclerosis syndrome	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	RCV001650881	SCV001862506	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001797600	SCV002039209	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001650881	SCV002050164	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV001797600	SCV002402167	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001797600	SCV004016103	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001797600	SCV004360882	benign	Tuberous sclerosis 2	2019-03-28	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042472	SCV000066263	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Clinical Genetics, Academic Medical Center	RCV000152158	SCV001922200	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152158	SCV001971791	benign	not specified		no assertion criteria provided	clinical testing