Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000333671 | SCV000334077 | uncertain significance | not provided | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000333671 | SCV001033723 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967717 | SCV004779813 | likely benign | ABCC2-related condition | 2021-03-09 | 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). |