Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578279 | SCV000680366 | pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2017-09-08 | criteria provided, single submitter | clinical testing |