Submissions for variant NM_000548.5(TSC2):c.3610+6G>A

gnomAD frequency: 0.00043  dbSNP: rs45517301

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125673	SCV000169135	benign	not specified	2014-02-11	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	RCV001081073	SCV000285356	benign	Tuberous sclerosis 2	2024-01-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125673	SCV000305199	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726033	SCV000341361	uncertain significance	not provided	2016-06-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042525	SCV001277607	likely benign	Tuberous sclerosis syndrome	2019-02-19	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000726033	SCV001501576	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BS2
Genome-Nilou Lab	RCV001081073	SCV002039773	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000726033	SCV002506118	likely benign	not provided	2022-01-06	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255266	SCV002533428	benign	Hereditary cancer-predisposing syndrome	2021-01-13	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000042525	SCV004821013	benign	Tuberous sclerosis syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002255266	SCV004971741	likely benign	Hereditary cancer-predisposing syndrome	2021-08-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Tuberous sclerosis database (TSC2)	RCV000042525	SCV000066316	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726033	SCV001744907	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000726033	SCV001919228	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000125673	SCV001968709	benign	not specified		no assertion criteria provided	clinical testing