Submissions for variant NM_000548.5(TSC2):c.138+20C>G

gnomAD frequency: 0.00041  dbSNP: rs45517092

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125644	SCV000169105	benign	not specified	2013-02-15	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	RCV002054852	SCV002339754	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528276	SCV004563087	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043023	SCV000066821	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528276	SCV001739745	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000125644	SCV001966304	benign	not specified		no assertion criteria provided	clinical testing