Submissions for variant NM_000548.5(TSC2):c.*7G>A

gnomAD frequency: 0.00007  dbSNP: rs765016970

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703563	SCV000516881	likely benign	not provided	2019-12-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121428	SCV001280038	uncertain significance	Tuberous sclerosis syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001797717	SCV002040307	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897857	SCV004710481	likely benign	TSC2-related condition	2020-08-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).