Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504301 | SCV000596261 | likely benign | not specified | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000504301 | SCV000721856 | likely benign | not specified | 2017-08-04 | 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 | RCV000879940 | SCV001022996 | likely benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925482 | SCV004741629 | likely benign | PCNT-related condition | 2021-06-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |