ClinVar Miner

Submissions for variant NM_001135242.2(NDRG1):c.64-6T>C (rs2272653)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254177 SCV000311378 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000602484 SCV000472142 benign Charcot-Marie-Tooth disease, type 4D 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.
Athena Diagnostics Inc RCV000254177 SCV000614154 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000254177 SCV000705806 benign not specified 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000380925 SCV001000066 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174350 SCV001337486 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602484 SCV000734594 benign Charcot-Marie-Tooth disease, type 4D no assertion criteria provided clinical testing
Natera, Inc. RCV000380925 SCV001452020 benign Charcot-Marie-Tooth disease type 4 2020-09-16 no assertion criteria provided clinical testing

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