Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712256 | SCV000842701 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712256 | SCV001914920 | benign | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001775585 | SCV002014090 | benign | Nephrotic syndrome 15 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712256 | SCV002407655 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117573 | SCV000151792 | 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. |