Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117966 | SCV000152254 | likely benign | not specified | 2013-08-23 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000117966 | SCV000614622 | benign | not specified | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707528 | SCV000727105 | likely benign | not provided | 2019-03-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000117966 | SCV000855272 | likely benign | not specified | 2018-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000872054 | SCV001013809 | likely 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 | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001707528 | SCV004163540 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | PLEC: BP4 |