Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001871576 | SCV002222783 | likely benign | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002486062 | SCV002782434 | 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 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279710 | SCV001466829 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-08-05 | no assertion criteria provided | clinical testing |