Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177597 | SCV000229495 | benign | not specified | 2014-07-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721116 | SCV000526312 | likely benign | not provided | 2020-08-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000177597 | SCV000614642 | benign | not specified | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001081109 | SCV000650339 | 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 | |
Ce |
RCV001721116 | SCV004163517 | benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7, BS1, BS2 |