Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175780 | SCV000227337 | uncertain significance | not provided | 2015-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081487 | SCV001018653 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000175780 | SCV004701536 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | DAG1: BP4, BP7 |
Prevention |
RCV003977432 | SCV004794998 | likely benign | DAG1-related condition | 2019-03-06 | 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). |