Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698254 | SCV000532093 | likely benign | not provided | 2019-08-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000550438 | SCV000650161 | 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 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000427871 | SCV000701158 | likely benign | not specified | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001698254 | SCV005222280 | likely benign | not provided | criteria provided, single submitter | not provided |