Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698217 | SCV000531147 | benign | not provided | 2020-06-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000464715 | SCV000543405 | benign | Mowat-Wilson syndrome | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000464715 | SCV002045710 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902597 | SCV004727689 | likely benign | ZEB2-related condition | 2022-08-16 | 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). |