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

Total submissions: 11

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	RCV000034649	SCV000261305	benign	not provided	2019-03-04	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
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