Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537054 | SCV000652890 | likely benign | MEGF8-related Carpenter syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001796118 | SCV004139633 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | MEGF8: BS2 |
Prevention |
RCV003980008 | SCV004795227 | likely benign | MEGF8-related condition | 2020-02-24 | 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). |
Laboratory of Diagnostic Genome Analysis, |
RCV001796118 | SCV002036224 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001796118 | SCV002038266 | likely benign | not provided | no assertion criteria provided | clinical testing |