Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153739 | SCV000334432 | benign | not specified | 2015-08-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488034 | SCV000519570 | likely benign | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29334134, 29050564) |
Ce |
RCV000488034 | SCV000575576 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | PLEC: BS2 |
Center for Pediatric Genomic Medicine, |
RCV000488034 | SCV000610628 | likely benign | not provided | 2017-09-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000488034 | SCV000614637 | benign | not provided | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081838 | SCV000650291 | 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 | 2024-01-27 | criteria provided, single submitter | clinical testing |