Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002499484 | SCV002813304 | 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 | 2021-09-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001280168 | SCV001467327 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-10-12 | no assertion criteria provided | clinical testing |