Submissions for variant NM_000548.5(TSC2):c.4493+7C>A

gnomAD frequency: 0.00014  dbSNP: rs199943270

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082080	SCV000285407	benign	Tuberous sclerosis 2	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000249888	SCV000305223	likely benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000249888	SCV000615910	benign	not specified	2016-09-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727250	SCV000706969	uncertain significance	not provided	2017-03-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000727250	SCV001905375	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001082080	SCV002040199	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000249888	SCV002774084	benign	not specified	2021-08-09	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005361394	SCV005918910	likely benign	Tuberous sclerosis syndrome	2024-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000727250	SCV001919670	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727250	SCV001968795	likely benign	not provided		no assertion criteria provided	clinical testing