Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000235680 | SCV000294202 | benign | Cowden syndrome | 2024-04-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998164 | SCV001944711 | benign | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25834816) |
Prevention |
RCV004535201 | SCV004741612 | likely benign | PIK3CA-related disorder | 2021-03-31 | no assertion criteria provided | 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). |