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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

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 12

    Gene

    GeneSubmissionsLast Updated
    ABCC61Jan 11, 2023
    COL1A21Jan 11, 2023
    COL3A11Jan 11, 2023
    COL5A11Jan 12, 2023
    LOC1300573521Jan 11, 2023
    MYH111Jan 12, 2023
    NDE11Jan 12, 2023
    NOTCH11Jan 12, 2023
    PKD12Jan 12, 2023
    PLOD11Jan 11, 2023
    PRMT72Jul 4, 2022
    SMAD31Jan 11, 2023

    Condition

    NameSubmissionsLast Updated
    Broad distal phalanx of the thumb1Jan 11, 2023
    Confusion1Jan 12, 2023
    Ehlers-Danlos syndrome, type 41Jan 11, 2023
    Increased circulating IgA level1Jan 11, 2023
    Large vessel vasculitis2Jan 12, 2023
    Low-set, posteriorly rotated ears1Jan 11, 2023
    Megaloblastic anemia, folate-responsive1Jan 12, 2023
    Orthostatic hypotension1Jan 11, 2023
    Short stature-brachydactyly-obesity-global developmental delay syndrome2Jul 4, 2022
    Small cervical vertebral bodies1Jan 12, 2023