Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501881 | SCV000596437 | likely benign | not specified | 2016-09-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000501881 | SCV000701192 | likely benign | not specified | 2017-02-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000876398 | SCV001018965 | 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 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662497 | SCV001873673 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001662497 | SCV004163503 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |