Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000289789 | SCV000335868 | likely benign | not specified | 2016-07-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000865412 | SCV001006371 | 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 | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004706753 | SCV005222329 | likely benign | not provided | criteria provided, single submitter | not provided |