Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000975038 | SCV001122912 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000975038 | SCV001796273 | likely benign | not provided | 2020-01-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925132 | SCV004742189 | benign | CEP135-related condition | 2019-05-30 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genetic Services Laboratory, |
RCV000116669 | SCV000150633 | 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. |