Submissions for variant NM_000548.5(TSC2):c.1119+6G>C

gnomAD frequency: 0.00002  dbSNP: rs397515305

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084211	SCV000766024	benign	Tuberous sclerosis 2	2024-10-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000644331	SCV001150685	likely benign	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001084211	SCV002041302	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496736	SCV002804853	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-01-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001084211	SCV005406126	likely benign	Tuberous sclerosis 2	2024-08-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Tuberous sclerosis database (TSC2)	RCV000055151	SCV000083369	not provided	Tuberous sclerosis syndrome		no assertion provided	curation