Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV000009544 | SCV000803724 | pathogenic | Brain-lung-thyroid syndrome | 2018-04-24 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009544 | SCV000029762 | pathogenic | Brain-lung-thyroid syndrome | 2002-02-01 | no assertion criteria provided | literature only |