Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000117575 | SCV000231105 | likely benign | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000885452 | SCV001028892 | benign | not provided | 2023-10-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498517 | SCV002811398 | likely benign | Nephrotic syndrome 15 | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117575 | SCV000151797 | 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. |