Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000251902 | SCV000313284 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000325881 | SCV000474966 | benign | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 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. |
Illumina Laboratory Services, |
RCV000380453 | SCV000474967 | benign | Charcot-Marie-Tooth disease recessive intermediate A | 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 | RCV000576842 | SCV000677309 | benign | Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000860132 | SCV001000063 | benign | Charcot-Marie-Tooth disease type 4A | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173552 | SCV001336642 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001539728 | SCV001757532 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000251902 | SCV000929646 | uncertain significance | not specified | no assertion criteria provided | literature only | ||
Clinical Genetics, |
RCV000251902 | SCV001923778 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000251902 | SCV001963169 | benign | not specified | no assertion criteria provided | clinical testing | ||
Inherited Neuropathy Consortium Ii, |
RCV003447131 | SCV004174650 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2K | 2016-01-06 | no assertion criteria provided | literature only |