Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116950 | SCV000313151 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000576851 | SCV000677286 | benign | Juvenile myoclonic epilepsy | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003764515 | SCV001725156 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668123 | SCV001886094 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002144 | SCV000022302 | uncertain significance | Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2004-08-01 | no assertion criteria provided | literature only | |
Genetic Services Laboratory, |
RCV000116950 | SCV000151059 | 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. |