Submissions for variant NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu)

dbSNP: rs368878445

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218870	SCV000272564	uncertain significance	not specified	2017-01-23	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
Invitae	RCV000477004	SCV000544314	likely benign	Tuberous sclerosis 2	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574771	SCV000675590	likely benign	Hereditary cancer-predisposing syndrome	2021-09-14	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	RCV000477004	SCV002039708	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153493	SCV003843792	likely pathogenic	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing