Submissions for variant NM_000548.5(TSC2):c.5260-15C>T

gnomAD frequency: 0.00138  dbSNP: rs45517416

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125701	SCV000169165	benign	not specified	2013-04-08	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125701	SCV000270959	likely benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing	c.5260-15C>T in intron 41 of TSC2: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 0.2% (132/65448) of European chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs45517416).
PreventionGenetics, part of Exact Sciences	RCV000125701	SCV000305247	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000043242	SCV000395679	likely benign	Tuberous sclerosis syndrome	2018-02-22	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001797607	SCV002039936	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV001797607	SCV002487038	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579334	SCV002545721	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TSC2: BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001797607	SCV004016112	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001797607	SCV004360944	likely benign	Tuberous sclerosis 2	2022-11-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579334	SCV004563380	benign	not provided	2023-08-18	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043242	SCV000067043	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579334	SCV001806837	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000125701	SCV001969676	benign	not specified		no assertion criteria provided	clinical testing