Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725386 | SCV000336534 | uncertain significance | not provided | 2015-10-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725386 | SCV000523413 | likely benign | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079141 | SCV000770512 | 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 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725386 | SCV003811169 | uncertain significance | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725386 | SCV004163516 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |