Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116257 | SCV000317022 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000531365 | SCV000653887 | benign | Congenital myasthenic syndrome 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560474 | SCV001782892 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116257 | SCV000150175 | 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. |