Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000881652 | SCV000519916 | benign | not provided | 2018-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000881652 | SCV001024842 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935124 | SCV004751144 | benign | RTTN-related condition | 2019-04-12 | 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, |
RCV000118206 | SCV000152565 | 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. |