Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000730517 | SCV000858259 | pathogenic | not provided | 2017-11-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002833 | SCV000022991 | pathogenic | Kindler's syndrome | 2003-04-15 | no assertion criteria provided | literature only |