Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724193 | SCV000229512 | uncertain significance | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000545545 | SCV000650308 | 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 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724193 | SCV000716222 | likely benign | not provided | 2020-04-27 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32707200) |
Athena Diagnostics Inc | RCV000724193 | SCV001475291 | likely benign | not provided | 2019-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724193 | SCV004163524 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | PLEC: BS2 |
Diagnostic Laboratory, |
RCV000724193 | SCV001743632 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000724193 | SCV001806985 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000724193 | SCV001921918 | uncertain significance | not provided | no assertion criteria provided | clinical testing |