ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) (rs41275239)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153826 SCV000203407 benign not specified 2015-04-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000153826 SCV000248706 benign not specified 2019-07-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000603002 SCV000465946 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000153826 SCV000514398 benign not specified 2017-12-13 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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000603002 SCV000598588 uncertain significance Norman-Roberts syndrome 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514000 SCV000610406 likely benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV001080110 SCV000656319 benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514000 SCV000843466 benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603002 SCV000734537 likely benign Norman-Roberts syndrome no assertion criteria provided clinical testing

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