Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193704 | SCV000246457 | benign | not specified | 2015-09-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000874685 | SCV000512098 | likely benign | not provided | 2020-12-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874685 | SCV001016892 | benign | not provided | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000874685 | SCV004154667 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | ARFGEF2: BP4, BP7, BS1, BS2 |
Prevention |
RCV003947592 | SCV004767059 | benign | ARFGEF2-related condition | 2019-07-18 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |