Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000383350 | SCV000362755 | likely benign | COFS syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000291244 | SCV000362756 | likely benign | Cockayne syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000330020 | SCV000362757 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514743 | SCV000609876 | likely benign | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000514743 | SCV001005078 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514743 | SCV001818657 | likely benign | not provided | 2020-07-14 | criteria provided, single submitter | clinical testing | |
Al Jalila Children’s Genomics Center, |
RCV001731575 | SCV001984156 | benign | not specified | 2020-01-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487334 | SCV002798396 | likely benign | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer | 2021-08-06 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000514743 | SCV005220671 | likely benign | not provided | criteria provided, single submitter | not provided |