Submissions for variant NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) (rs45484298)

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory,University of Chicago	RCV000122204	SCV000153113	likely benign	not specified	2014-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000163424	SCV000213969	likely benign	Hereditary cancer-predisposing syndrome	2018-08-21	criteria provided, single submitter	clinical testing	Other data supporting benign classification;Subpopulation frequency in support of benign classification
GeneDx	RCV000122204	SCV000243540	likely benign	not specified	2017-12-05	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.
Invitae	RCV000227708	SCV000285236	benign	Tuberous sclerosis 2	2019-12-31	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia	RCV000227708	SCV000296948	uncertain significance	Tuberous sclerosis 2	2015-10-30	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000122204	SCV000305143	likely benign	not specified		criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000122204	SCV000340586	likely benign	not specified	2016-03-24	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000054863	SCV000395576	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000227708	SCV000493815	uncertain significance	Tuberous sclerosis 2	2016-01-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001283101	SCV000605464	likely benign	none provided	2019-09-25	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000034643	SCV000610912	likely benign	not provided	2017-06-20	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034643	SCV000043526	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2)	RCV000054863	SCV000067257	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
ITMI	RCV000122204	SCV000086425	not provided	not specified	2013-09-19	no assertion provided	reference population
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.	RCV000201296	SCV000222732	uncertain significance	Hirschsprung disease 1	2015-04-01	no assertion criteria provided	research