Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000283225 | SCV000446315 | likely benign | Adult polyglucosan body disease | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV000340436 | SCV000446316 | likely benign | Glycogen storage disease, type IV | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000967685 | SCV000522307 | likely benign | not provided | 2021-02-23 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000437234 | SCV000861423 | likely benign | not specified | 2018-05-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083931 | SCV001115091 | benign | Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000967685 | SCV001154002 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | GBE1: BP4, BP7, BS2 |
Genome- |
RCV000340436 | SCV001653475 | likely benign | Glycogen storage disease, type IV | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000967685 | SCV001922564 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000967685 | SCV001966654 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000967685 | SCV002035805 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000340436 | SCV002082394 | benign | Glycogen storage disease, type IV | 2019-10-18 | no assertion criteria provided | clinical testing |