Submissions for variant NM_000548.5(TSC2):c.775-4G>A

gnomAD frequency: 0.00008  dbSNP: rs754957491

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163888	SCV000214479	likely benign	Hereditary cancer-predisposing syndrome	2019-07-11	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.
Invitae	RCV000457384	SCV000556482	benign	Tuberous sclerosis 2	2024-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001657912	SCV001875026	likely benign	not provided	2021-09-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000457384	SCV002041266	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163888	SCV002534108	likely benign	Hereditary cancer-predisposing syndrome	2022-01-25	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002505201	SCV002809139	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001657912	SCV002822233	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	TSC2: BP4