Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000300593 | SCV000345044 | uncertain significance | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087007 | SCV000770391 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000300593 | SCV001475961 | likely benign | not provided | 2020-06-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000300593 | SCV001804170 | likely benign | not provided | 2019-01-31 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function |