Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712250 | SCV000842695 | benign | not provided | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000712250 | SCV001001407 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712250 | SCV002007069 | likely benign | not provided | 2020-11-02 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117568 | SCV000151787 | 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. |