Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248935 | SCV000314099 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000271283 | SCV000385289 | benign | Focal segmental glomerulosclerosis 5 | 2018-01-12 | 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. |
Gene |
RCV000248935 | SCV000519432 | benign | not specified | 2015-12-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics | RCV000576581 | SCV000677319 | benign | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001513993 | SCV001721715 | benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730647 | SCV001981101 | benign | Charcot-Marie-Tooth disease dominant intermediate E | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000248935 | SCV005087604 | benign | not specified | 2024-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 92. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000576581 | SCV005296667 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000248935 | SCV001740222 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000248935 | SCV001919047 | benign | not specified | no assertion criteria provided | clinical testing |