Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415816 | SCV000493364 | uncertain significance | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000415816 | SCV000533802 | likely benign | not provided | 2021-03-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000415816 | SCV000843266 | likely benign | not provided | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088925 | SCV001018734 | 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 | 2023-11-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000415816 | SCV003817357 | uncertain significance | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing |