ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8843+3A>C (rs200124755)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513015 SCV000231351 uncertain significance not provided 2014-06-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513015 SCV000609268 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765901 SCV000897321 uncertain significance Familial temporal lobe epilepsy 1; Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001084851 SCV001092080 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000603899 SCV001323767 uncertain significance Norman-Roberts syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197868 SCV001368651 uncertain significance Hyperactivity; Delayed speech and language development; Joint hypermobility; Intellectual disability, moderate; Muscular hypotonia 2019-08-20 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in heterozygous state.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655999 SCV000588275 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603899 SCV000734531 uncertain significance Norman-Roberts syndrome no assertion criteria provided clinical testing

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