Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001495482 | SCV001700164 | likely benign | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2023-07-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001673067 | SCV001891632 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003966012 | SCV004785263 | likely benign | PSTPIP1-related condition | 2019-08-16 | 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). |