ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) (rs138967272)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203897 SCV000260071 benign Charcot-Marie-Tooth disease, type I 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000988369 SCV000363332 likely benign Charcot-Marie-Tooth disease, demyelinating, type 1d 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mendelics RCV000988369 SCV001138057 benign Charcot-Marie-Tooth disease, demyelinating, type 1d 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV000789052 SCV001336319 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789052 SCV000928401 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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