Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484662 | SCV000570907 | likely benign | not provided | 2021-04-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088666 | SCV000654119 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001088666 | SCV004234603 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2023-04-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960129 | SCV004776301 | likely benign | B4GAT1-related condition | 2023-05-18 | 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). |