Submissions for variant NM_000548.5(TSC2):c.1443+18C>T

gnomAD frequency: 0.00379  dbSNP: rs375947241

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125650	SCV000169111	benign	not specified	2013-03-01	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.
PreventionGenetics, part of Exact Sciences	RCV000125650	SCV000305149	benign	not specified		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001797618	SCV002041339	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811345	SCV002049969	benign	not provided	2022-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001797618	SCV002374367	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490629	SCV002799098	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2021-07-17	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001797618	SCV004016137	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811345	SCV005297706	benign	not provided		criteria provided, single submitter	not provided
Tuberous sclerosis database (TSC2)	RCV000055141	SCV000083359	not provided	Tuberous sclerosis syndrome		no assertion provided	curation