Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733187 | SCV000861218 | uncertain significance | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975285 | SCV004788731 | likely benign | GPBAR1-related disorder | 2022-01-31 | no assertion criteria provided | 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). |