Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Claritas Genomics | RCV000116999 | SCV000222808 | benign | not specified | 2012-07-13 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000116999 | SCV000302376 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000403636 | SCV000362764 | benign | COFS syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301693 | SCV000362765 | benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000358890 | SCV000362766 | benign | Cockayne syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001511013 | SCV001718186 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001511013 | SCV001872675 | benign | not provided | 2019-01-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116999 | SCV000151120 | 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. |