Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001487694 | SCV001692190 | likely benign | not provided | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493487 | SCV002795922 | likely benign | Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001278989 | SCV001466044 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-10-19 | no assertion criteria provided | clinical testing |