Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116477 | SCV000150410 | 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. | |
Genome Diagnostics Laboratory, |
RCV000625513 | SCV000746004 | benign | Spinocerebellar ataxia type 2 | 2015-02-07 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000116477 | SCV001917961 | benign | not specified | no assertion criteria provided | clinical testing |