Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002262755 | SCV002544215 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | AP1S3: PP3, BS1, BS2 |
Prevention |
RCV003982906 | SCV004799719 | likely benign | AP1S3-related condition | 2022-07-11 | 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). |
OMIM | RCV000148043 | SCV000195549 | risk factor | Psoriasis 15, pustular, susceptibility to | 2014-05-01 | no assertion criteria provided | literature only |