Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001723680 | SCV001949844 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32934817) |
Genome- |
RCV001781455 | SCV002026769 | benign | Seckel syndrome 7 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001723680 | SCV002353275 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117803 | SCV000152064 | 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. |