ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) (rs118203493)

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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 RCV000163322 SCV000213850 likely benign Hereditary cancer-predisposing syndrome 2017-09-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034599 SCV000043517 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122185 SCV000860720 benign not specified 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000122185 SCV000514991 benign not specified 2018-01-10 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.
ITMI RCV000122185 SCV000086402 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000054852 SCV000478241 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404533 SCV000478242 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471481 SCV000562509 benign Tuberous sclerosis 1 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000122185 SCV000303840 likely benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054852 SCV000065765 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054950 SCV000083166 not provided Autism spectrum disorder no assertion provided curation

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