Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116261 | SCV000317037 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000543419 | SCV000653911 | benign | Congenital myasthenic syndrome 8 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618264 | SCV001845940 | benign | not provided | 2020-08-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31167812) |
Genetic Services Laboratory, |
RCV000116261 | SCV000150179 | 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. |