Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725198 | SCV000334840 | uncertain significance | not provided | 2015-09-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725198 | SCV000713996 | likely benign | not provided | 2020-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083079 | SCV001012040 | 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 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725198 | SCV001145071 | benign | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725198 | SCV001248537 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Revvity Omics, |
RCV000725198 | SCV003817879 | likely benign | not provided | 2023-05-05 | criteria provided, single submitter | clinical testing |