Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180053 | SCV000232414 | uncertain significance | not provided | 2015-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000180053 | SCV001659496 | likely benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927694 | SCV004750282 | likely benign | ADGRV1-related condition | 2019-07-03 | 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). |