Submissions for variant NM_000548.5(TSC2):c.*26G>A

gnomAD frequency: 0.03592  dbSNP: rs13332015

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253551	SCV000305135	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042924	SCV000395690	benign	Tuberous sclerosis syndrome	2018-01-13	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001682740	SCV001903314	benign	not provided	2018-06-14	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042924	SCV000066721	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation	RCV000058883	SCV000090403	not provided	Tuberous sclerosis 2		no assertion provided	not provided