Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127487 | SCV000171062 | benign | not specified | 2014-05-21 | 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. |
Genetic Services Laboratory, |
RCV000147344 | SCV000194717 | uncertain significance | Microcephaly, seizures, and developmental delay | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648438 | SCV000770258 | benign | Developmental and epileptic encephalopathy, 12 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905214 | SCV004722030 | benign | PNKP-related condition | 2021-02-11 | 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). |