Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000712728 | SCV000332335 | uncertain significance | not provided | 2015-06-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712728 | SCV000532265 | likely benign | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001080184 | SCV000677097 | 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 | |
Athena Diagnostics | RCV000712728 | SCV000843250 | likely benign | not provided | 2018-05-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712728 | SCV005434624 | likely benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | PLEC: BP4 |