Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501749 | SCV000593290 | likely benign | not specified | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003727741 | SCV004537644 | benign | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942623 | SCV004757411 | likely benign | ARFGEF2-related disorder | 2024-01-03 | 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). |