Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000190470 | SCV002805183 | likely pathogenic | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 2021-08-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000190470 | SCV000245353 | pathogenic | Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 2015-07-01 | no assertion criteria provided | literature only |