Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000117912 | SCV000306822 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001787924 | SCV002029914 | benign | Ataxia with oculomotor apraxia type 3 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117912 | SCV000152188 | 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. |