Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000254335 | SCV000309437 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000375561 | SCV000349207 | benign | Elliptocytosis 2 | 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, |
RCV000292855 | SCV000349208 | benign | Pyropoikilocytosis, hereditary | 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, |
RCV000331337 | SCV000349209 | benign | Hereditary spherocytosis type 3 | 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. |
ARUP Laboratories, |
RCV001640528 | SCV001158745 | likely benign | not provided | 2021-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640528 | SCV001861143 | benign | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32581362) |
Genome- |
RCV000292855 | SCV002057666 | benign | Pyropoikilocytosis, hereditary | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000331337 | SCV002057667 | benign | Hereditary spherocytosis type 3 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000375561 | SCV002057668 | benign | Elliptocytosis 2 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001640528 | SCV002481539 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV001003792 | SCV001162236 | likely pathogenic | Hemolytic anemia | no assertion criteria provided | research | ||
Diagnostic Laboratory, |
RCV000254335 | SCV001741784 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000254335 | SCV001932457 | benign | not specified | no assertion criteria provided | clinical testing |