Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000953276 | SCV001099839 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000953276 | SCV001939629 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490800 | SCV002807066 | benign | Occipital pachygyria and polymicrogyria | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000953276 | SCV003917717 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | LAMC3: BP4, BS1, BS2 |
Genetic Services Laboratory, |
RCV000117468 | SCV000151686 | 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. |