Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000731140 | SCV000515789 | likely benign | not provided | 2018-04-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000731140 | SCV000858918 | uncertain significance | not provided | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001487542 | SCV001692032 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2022-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004539791 | SCV004785790 | likely benign | POMT1-related disorder | 2021-05-04 | 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). |