Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116943 | SCV000313147 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000116943 | SCV000340382 | benign | not specified | 2016-03-08 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385399 | SCV000464170 | likely benign | Juvenile myoclonic epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003764814 | SCV000562690 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000385399 | SCV000677282 | benign | Juvenile myoclonic epilepsy | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723678 | SCV001950702 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001723678 | SCV005222021 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000116943 | SCV000151052 | 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. |