Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000372182 | SCV000343799 | uncertain significance | not provided | 2016-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000372182 | SCV002419443 | likely benign | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000372182 | SCV004159139 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | ADGRV1: BP4, BP7 |
Prevention |
RCV003910029 | SCV004722707 | likely benign | ADGRV1-related condition | 2019-08-28 | 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). |