Submissions for variant NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) (rs45517238)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163390	SCV000213930	benign	Hereditary cancer-predisposing syndrome	2018-08-27	criteria provided, single submitter	clinical testing	Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000176271	SCV000227901	likely benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000176271	SCV000243566	benign	not specified	2016-07-05	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	RCV000989426	SCV000261305	benign	Tuberous sclerosis 2	2019-12-31	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000034649	SCV000280642	likely benign	not provided	2015-10-05	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000176271	SCV000540606	uncertain significance	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.1% (62/65736) European chromsomes; ClinVar: 4 labs classify as LB.
Genetic Services Laboratory, University of Chicago	RCV000176271	SCV000597595	likely benign	not specified	2016-08-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000989426	SCV001139749	likely benign	Tuberous sclerosis 2	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000054857	SCV001277497	likely benign	Tuberous sclerosis syndrome	2019-03-14	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034649	SCV000043532	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2)	RCV000054857	SCV000067262	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
CSER _CC_NCGL, University of Washington	RCV000054857	SCV000190663	likely benign	Tuberous sclerosis syndrome	2014-06-01	no assertion criteria provided	research