Clinical Neuroscience (Fondazione IRCCS Istituto Neurologico Carlo Besta), N3-GENLAB
General information
Personnel
- Ilaria D'Amato, Variant scientist/curator
Phone: +390223944514
Email: ilaria.damato@istituto-besta.it - Margherita Marchi, Principal Investigator
Phone: +390223944655
Email: margherita.marchi@istituto-besta.it
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 4
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 3 | May 5, 2025 |
| Visceral myopathy 1 | 1 | May 1, 2025 |