ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) (rs75820036)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570330 SCV000664738 benign Hereditary cancer-predisposing syndrome 2015-08-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,Co-occurence with mutation in same gene (phase unknown),Does not segregate with disease in family study (genes with incomplete penetrance),Subpopulation frequency in support of benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034604 SCV000043512 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Center for Human Genetics, Inc RCV000234486 SCV000782391 likely benign Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186670 SCV000334326 likely benign not specified 2015-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000186670 SCV000169088 benign not specified 2013-11-18 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 RCV000234486 SCV000284686 benign Tuberous sclerosis 1 2018-01-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000186670 SCV000540594 benign 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: 1.1% (95/8654) East Asian; ClinVar: 1B, 1 LB
PreventionGenetics RCV000186670 SCV000303855 benign not specified criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000234486 SCV000267545 uncertain significance Tuberous sclerosis 1 2016-03-18 criteria provided, single submitter reference population
Tuberous sclerosis database (TSC1) RCV000054846 SCV000065893 not provided Tuberous sclerosis syndrome no assertion provided curation

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