Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000656689 | SCV000777890 | pathogenic | Vascular dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver | 2018-05-28 | criteria provided, single submitter | research |