Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000264849 | SCV000332281 | likely benign | not specified | 2015-06-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712766 | SCV000524720 | likely benign | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083241 | SCV000650470 | 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 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712766 | SCV000843290 | benign | not provided | 2018-05-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712766 | SCV001746978 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Fulgent Genetics, |
RCV002503980 | SCV002802742 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 | 2021-09-14 | criteria provided, single submitter | clinical testing |