Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000225974 | SCV000291083 | benign | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001094384 | SCV000396839 | likely benign | Fanconi anemia complementation group P | 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 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 |
RCV001573439 | SCV001935036 | benign | not provided | 2020-03-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22911665) |
Institute for Clinical Genetics, |
RCV001573439 | SCV002010102 | benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001194841 | SCV002071724 | benign | not specified | 2020-08-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001573439 | SCV002585542 | benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | SLX4: BP4, BS1, BS2 |
Leiden Open Variation Database | RCV001194841 | SCV001364665 | likely benign | not specified | 2012-08-31 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker. |
Laboratory of Diagnostic Genome Analysis, |
RCV001573439 | SCV001799332 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573439 | SCV001971761 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001194841 | SCV001977666 | benign | not specified | no assertion criteria provided | clinical testing |