Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177605 | SCV000334218 | benign | not specified | 2015-08-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177605 | SCV000518337 | benign | not specified | 2016-06-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000555665 | SCV000650369 | 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 | |
Fulgent Genetics, |
RCV002492777 | SCV002800448 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 | 2021-12-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003436972 | SCV004163506 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | PLEC: BS1 |