Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000656663 | SCV000777891 | pathogenic | Vascular dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver | 2018-05-28 | criteria provided, single submitter | research | |
OMIM | RCV000754849 | SCV000882729 | pathogenic | Rajab interstitial lung disease with brain calcifications | 2020-09-08 | no assertion criteria provided | literature only |