Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725108 | SCV000334063 | uncertain significance | not provided | 2018-07-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725108 | SCV000715537 | likely benign | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086383 | SCV000770396 | 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 | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725108 | SCV001145049 | benign | not provided | 2018-12-28 | criteria provided, single submitter | clinical testing |