PG23_Medical Genetics Lab (ASST Papa Giovanni XXIII), LGM
General information
PG23_Medical Genetics Lab, LGM
ASST Papa Giovanni XXIII
Piazza OMS, 1
Bergamo
Italy - 24127
http://www.asst-pg23.it/
Organization ID: 507220
ASST Papa Giovanni XXIII
Piazza OMS, 1
Bergamo
Italy - 24127
http://www.asst-pg23.it/
Organization ID: 507220
Personnel
- Maria Iascone, Lab Director
Phone: +390352678112
Email: maria.iascone@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Broad distal phalanx of the thumb | 1 | Jan 11, 2023 |
Confusion | 1 | Jan 12, 2023 |
Ehlers-Danlos syndrome, type 4 | 1 | Jan 11, 2023 |
Increased circulating IgA level | 1 | Jan 11, 2023 |
Large vessel vasculitis | 2 | Jan 12, 2023 |
Low-set, posteriorly rotated ears | 1 | Jan 11, 2023 |
Megaloblastic anemia, folate-responsive | 1 | Jan 12, 2023 |
Orthostatic hypotension | 1 | Jan 11, 2023 |
Short stature-brachydactyly-obesity-global developmental delay syndrome | 2 | Jul 4, 2022 |
Small cervical vertebral bodies | 1 | Jan 12, 2023 |