ClinVar Miner

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

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Total submissions: 11
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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

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