Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Center for Gene Diagnosis and Therapy, |
RCV001375675 | SCV001572593 | pathogenic | Channelopathy-associated congenital insensitivity to pain, autosomal recessive | no assertion criteria provided | research |