Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000967690 | SCV001115097 | likely benign | Fanconi-Bickel syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960789 | SCV004770613 | likely benign | SLC2A2-related condition | 2020-01-14 | 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). |