Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000018113 | SCV000781314 | pathogenic | Waardenburg syndrome type 4A | 2016-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018112 | SCV000038391 | risk factor | Hirschsprung disease 2 | 1994-12-30 | no assertion criteria provided | literature only | |
OMIM | RCV000018113 | SCV000038392 | pathogenic | Waardenburg syndrome type 4A | 1994-12-30 | no assertion criteria provided | literature only |