Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002486045 | SCV002776984 | uncertain significance | 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 | 2022-01-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001278923 | SCV001465969 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-09-06 | no assertion criteria provided | clinical testing |