Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116262 | SCV000317038 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000116262 | SCV000612299 | benign | not specified | 2021-03-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000536981 | SCV000653913 | benign | Congenital myasthenic syndrome 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704018 | SCV000714925 | benign | not provided | 2019-04-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704018 | SCV004126878 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | AGRN: BP4, BP7, BS2 |
Genetic Services Laboratory, |
RCV000116262 | SCV000150180 | 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. |