Submissions for variant NM_000548.5(TSC2):c.2823C>T (p.Asn941=)

gnomAD frequency: 0.00001  dbSNP: rs750806272

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001086136	SCV000644383	benign	Tuberous sclerosis 2	2024-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000592123	SCV000708103	uncertain significance	not provided	2017-05-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086136	SCV002039689	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257812	SCV002533336	benign	Hereditary cancer-predisposing syndrome	2022-01-06	criteria provided, single submitter	curation
Ambry Genetics	RCV002257812	SCV002752224	likely benign	Hereditary cancer-predisposing syndrome	2015-12-02	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.
CeGaT Center for Human Genetics Tuebingen	RCV000592123	SCV004133838	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7