ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) (rs149377346)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204097 SCV000260809 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625090 SCV000398649 benign Charcot-Marie-Tooth disease, type 2N 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625090 SCV000743756 likely benign Charcot-Marie-Tooth disease, type 2N 2014-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000369 SCV001157121 benign not specified 2019-05-23 criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143805 SCV000188698 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.

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