Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000381874 | SCV000404313 | likely benign | Fanconi anemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000269140 | SCV000404314 | likely benign | Breast and Ovarian Cancer Susceptibility | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712111 | SCV001945697 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001712111 | SCV005211125 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Leiden Open Variation Database | RCV001195004 | SCV001365235 | likely benign | not specified | 2014-11-02 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Christine Rappaport. |
Clinical Genetics Laboratory, |
RCV001195004 | SCV001905896 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001195004 | SCV001953522 | benign | not specified | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004544583 | SCV004795890 | benign | RAD51C-related disorder | 2022-09-09 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |