Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002486064 | SCV002787872 | 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 | 2021-08-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002541719 | SCV003267608 | likely benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279714 | SCV001466833 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-08-14 | no assertion criteria provided | clinical testing |