ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1086A>C (p.Arg362=) (rs45602133)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252598 SCV000304027 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094001 SCV000363333 benign Charcot-Marie-Tooth disease, demyelinating, type 1d 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 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.
Invitae RCV000471277 SCV000560953 benign Charcot-Marie-Tooth disease, type I 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000857428 SCV001143858 benign not provided 2019-07-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173480 SCV001336569 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000857428 SCV001843114 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000252598 SCV000929635 uncertain significance not specified no assertion criteria provided literature only

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