ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.133C>G (p.Arg45Gly)

gnomAD frequency: 0.00569  dbSNP: rs115090201
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000391732 SCV000337356 benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094605 SCV000413257 benign Charcot-Marie-Tooth disease type 4F 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.
GeneDx RCV001537829 SCV000514285 benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25164601)
Invitae RCV000460133 SCV000561607 benign Charcot-Marie-Tooth disease type 4 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000391732 SCV001880765 benign not specified 2021-02-25 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789072 SCV000928421 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001537829 SCV001923613 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000391732 SCV001976231 benign not specified no assertion criteria provided clinical testing

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