Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Claritas Genomics | RCV000117001 | SCV000222814 | benign | not specified | 2012-06-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117001 | SCV000302380 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000346112 | SCV000362740 | benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000402619 | SCV000362741 | benign | Cockayne syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000292311 | SCV000362742 | benign | COFS syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000117001 | SCV000700587 | benign | not specified | 2016-11-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001510481 | SCV001717524 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001510481 | SCV001900405 | benign | not provided | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001510481 | SCV005319374 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000117001 | SCV000151122 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000117001 | SCV001743835 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000117001 | SCV001957228 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117001 | SCV001968871 | benign | not specified | no assertion criteria provided | clinical testing |