Submissions for variant NM_000548.5(TSC2):c.3102C>G (p.Val1034=)

dbSNP: rs562998574

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228234	SCV000285331	benign	Tuberous sclerosis 2	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563194	SCV000675625	likely benign	Hereditary cancer-predisposing syndrome	2016-07-18	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.
GeneDx	RCV001545292	SCV001764598	likely benign	not provided	2018-10-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000228234	SCV002039287	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000563194	SCV002533366	likely benign	Hereditary cancer-predisposing syndrome	2020-09-16	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000228234	SCV004016164	likely benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897527	SCV004714190	likely benign	TSC2-related condition	2023-12-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).