Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001351490 | SCV001545968 | likely benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493810 | SCV002777874 | 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 | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001825973 | SCV002079271 | uncertain significance | Epidermolysis bullosa dystrophica | 2020-01-16 | no assertion criteria provided | clinical testing |