Submissions for variant NM_000548.5(TSC2):c.2639+10C>T

gnomAD frequency: 0.00004  dbSNP: rs137854378

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080378	SCV000556459	benign	Tuberous sclerosis 2	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000603883	SCV000730289	likely benign	not specified	2017-10-26	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.
Athena Diagnostics Inc	RCV000456709	SCV001146279	benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000043110	SCV001279689	uncertain significance	Tuberous sclerosis syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab	RCV001080378	SCV002039671	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000603883	SCV002071882	likely benign	not specified	2021-09-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001080378	SCV004016152	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043110	SCV000066909	not provided	Tuberous sclerosis syndrome		no assertion provided	curation