ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) (rs116716038)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118162 SCV000152512 benign not specified 2016-08-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290302 SCV000465937 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513733 SCV000610797 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513733 SCV000614876 benign not provided 2019-01-16 criteria provided, single submitter clinical testing
Invitae RCV001082701 SCV000656336 benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252608 SCV001428367 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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