Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176267 | SCV000227894 | uncertain significance | not provided | 2015-03-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001450221 | SCV001653823 | 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 | 2020-11-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000176267 | SCV003814950 | uncertain significance | not provided | 2022-04-28 | criteria provided, single submitter | clinical testing |