Submissions for variant NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)

gnomAD frequency: 0.00002  dbSNP: rs747104674

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001722450	SCV000621623	likely benign	not provided	2020-08-04	criteria provided, single submitter	clinical testing
Invitae	RCV000706187	SCV000835224	benign	Tuberous sclerosis 2	2024-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002255426	SCV000851087	likely benign	Hereditary cancer-predisposing syndrome	2016-07-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Genome-Nilou Lab	RCV000706187	SCV002039288	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255426	SCV002533367	likely benign	Hereditary cancer-predisposing syndrome	2022-03-09	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001722450	SCV004133843	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7