Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116932 | SCV000310694 | benign | not specified | 2016-02-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668231 | SCV001890753 | benign | not provided | 2018-11-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116932 | SCV000151041 | 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. |