ClinVar Miner

Submissions for variant NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) (rs61735578)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000576414 SCV000374989 benign Charcot-Marie-Tooth disease, type 4B1 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 RCV000465272 SCV000557439 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576414 SCV000677361 benign Charcot-Marie-Tooth disease, type 4B1 2017-06-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000576414 SCV000744084 benign Charcot-Marie-Tooth disease, type 4B1 2016-03-10 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173027 SCV001336102 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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