Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000270531 | SCV000335904 | likely benign | not specified | 2015-09-26 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000270531 | SCV000614611 | likely benign | not specified | 2017-03-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000555010 | SCV000650199 | 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 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001534585 | SCV000724563 | likely benign | not provided | 2021-06-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001534585 | SCV004156391 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BP7 |
Breakthrough Genomics, |
RCV001534585 | SCV005222345 | likely benign | not provided | criteria provided, single submitter | not provided |