ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) (rs118203481)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572872 SCV000675346 likely benign Hereditary cancer-predisposing syndrome 2018-04-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Intact protein function observed in appropriate functional assay(s)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034598 SCV000043518 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000122200 SCV000527394 benign not specified 2018-01-31 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.
Genetic Services Laboratory, University of Chicago RCV000122200 SCV000153104 likely benign not specified 2014-09-10 criteria provided, single submitter clinical testing
ITMI RCV000122200 SCV000086419 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000398057 SCV000478245 likely benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054847 SCV000478246 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230702 SCV000284662 benign Tuberous sclerosis 1 2017-12-27 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000054847 SCV000065752 not provided Tuberous sclerosis syndrome no assertion provided curation

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