ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.474-7T>C (rs55693709)

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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 RCV000723687 SCV000113141 uncertain significance not provided 2017-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194617 SCV000248702 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370651 SCV000465990 uncertain significance Norman-Roberts syndrome 2018-01-12 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.
GeneDx RCV000723687 SCV000514388 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Invitae RCV001086262 SCV000656304 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2020-12-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723687 SCV001155215 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000194617 SCV001474654 benign not specified 2020-07-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000723687 SCV001926520 likely benign not provided no assertion criteria provided clinical testing

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