Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538325 | SCV000641818 | benign | Vici syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562451 | SCV001785214 | likely benign | not provided | 2019-12-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001562451 | SCV003918009 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | EPG5: BP4, BP7, BS1, BS2 |
Prevention |
RCV003915564 | SCV004736039 | benign | EPG5-related condition | 2019-05-08 | 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). |