Submissions for variant NM_000548.5(TSC2):c.3884-17C>G

dbSNP: rs45517317

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125680	SCV000169142	benign	not specified	2014-05-19	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.
Vantari Genetics	RCV000210793	SCV000267097	benign	Hereditary cancer-predisposing syndrome	2016-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125680	SCV000305206	likely benign	not specified		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001797604	SCV002039389	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Invitae	RCV001797604	SCV002442692	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042773	SCV000066569	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579953	SCV001809157	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579953	SCV001919128	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000125680	SCV001969788	benign	not specified		no assertion criteria provided	clinical testing