Submissions for variant NM_000548.5(TSC2):c.5161-8G>A

gnomAD frequency: 0.00002  dbSNP: rs374674097

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428202	SCV000515059	benign	not specified	2015-03-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000460210	SCV000556614	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000460210	SCV002039920	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488894	SCV002804167	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-04-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000460210	SCV004016148	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003983037	SCV004796995	likely benign	TSC2-related condition	2023-08-18	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).