Submissions for variant NM_000368.5(TSC1):c.2268A>G (p.Lys756=)

gnomAD frequency: 0.00001  dbSNP: rs760004541

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000887489	SCV001031046	likely benign	Tuberous sclerosis 1	2023-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014984	SCV001175763	likely benign	Hereditary cancer-predisposing syndrome	2019-05-31	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.
Genome-Nilou Lab	RCV000887489	SCV002040392	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003432878	SCV004156642	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	TSC1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004003143	SCV004819901	likely benign	Tuberous sclerosis syndrome	2023-05-16	criteria provided, single submitter	clinical testing