Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251160 | SCV000314937 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001094385 | SCV000396841 | benign | Fanconi anemia complementation group P | 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, |
RCV000251160 | SCV000605193 | benign | not specified | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000320364 | SCV001000329 | benign | Fanconi anemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706374 | SCV001869236 | benign | not provided | 2019-02-24 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001094385 | SCV004015458 | benign | Fanconi anemia complementation group P | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001706374 | SCV005295848 | benign | not provided | criteria provided, single submitter | not provided | ||
Leiden Open Variation Database | RCV000251160 | SCV001364664 | likely benign | not specified | 2012-08-31 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker. |