Submissions for variant NM_000368.5(TSC1):c.2502+18A>C

gnomAD frequency: 0.00023  dbSNP: rs200908079

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125632	SCV000169092	benign	not specified	2013-01-29	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055588	SCV002387508	benign	Tuberous sclerosis 1	2025-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498608	SCV002808616	likely benign	Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II	2022-05-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221814	SCV003917726	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TSC1: BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV002055588	SCV004016086	benign	Tuberous sclerosis 1	2023-07-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004017412	SCV004849334	uncertain significance	Hereditary cancer-predisposing syndrome	2014-11-25	criteria provided, single submitter	clinical testing	The c.2502+18A>C intronic alteration consists of a A to C substitution 8 nucleotides after coding exon 17 in the TSC1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.