Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000117482 | SCV000344759 | benign | not specified | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000961962 | SCV001109021 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000961962 | SCV001856719 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117482 | SCV000151700 | 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. |