Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116947 | SCV000313148 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000302395 | SCV000464177 | likely benign | Juvenile myoclonic epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000302395 | SCV000677283 | benign | Juvenile myoclonic epilepsy | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003764818 | SCV001716594 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610407 | SCV001841618 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001610407 | SCV005222023 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000116947 | SCV000151056 | 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. |