Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597334 | SCV000701254 | uncertain significance | not provided | 2016-10-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088460 | SCV001005060 | benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000597334 | SCV001739112 | likely benign | not provided | 2021-03-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32707200) |
Prevention |
RCV004543310 | SCV004764346 | likely benign | PLEC-related disorder | 2020-03-23 | no assertion criteria provided | 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). |