Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000118617 | SCV000312564 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000118617 | SCV000516525 | benign | not specified | 2016-02-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001518171 | SCV001726820 | benign | Orofacial-digital syndrome IV; Joubert syndrome 18 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118617 | SCV000153025 | 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. |