Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000921322 | SCV001066723 | likely benign | Tyrosinemia type I | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902999 | SCV004724406 | likely benign | FAH-related condition | 2019-12-26 | 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). |
Natera, |
RCV000921322 | SCV002089843 | likely benign | Tyrosinemia type I | 2020-09-29 | no assertion criteria provided | clinical testing |