Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000909181 | SCV001053976 | benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000909181 | SCV001819952 | likely benign | not provided | 2020-03-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498531 | SCV002809163 | likely benign | Microcephalic primordial dwarfism due to RTTN deficiency | 2022-01-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118227 | SCV000152586 | 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. |