Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082231 | SCV000114180 | benign | not specified | 2012-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000277601 | SCV000636609 | benign | Kleefstra syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668209 | SCV001891027 | benign | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082231 | SCV000151080 | 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. |