ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) (rs4280262)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000576745 SCV000394833 benign Charcot-Marie-Tooth disease, type 1C 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 RCV000576745 SCV000677254 benign Charcot-Marie-Tooth disease, type 1C 2017-04-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595000 SCV000705488 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000576745 SCV000884078 benign Charcot-Marie-Tooth disease, type 1C 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV000576745 SCV001000463 benign Charcot-Marie-Tooth disease, type 1C 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV000790000 SCV001337365 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000576745 SCV000733483 benign Charcot-Marie-Tooth disease, type 1C no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000790000 SCV000929389 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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