Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727713 | SCV000724236 | likely benign | not provided | 2020-06-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727713 | SCV000855063 | uncertain significance | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086895 | SCV001120705 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727713 | SCV002545496 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | CRPPA: BP4 |
Prevention |
RCV004544761 | SCV004772711 | likely benign | CRPPA-related disorder | 2019-08-01 | 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). |