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Diagnostics Centre (Carl Von Ossietzky University Oldenburg)

General information

Diagnostics Centre
Carl Von Ossietzky University Oldenburg
Rahel-Straus-Strasse 10
Oldenburg
Niedersachsen
Germany - 26131
https://www.klinikum-oldenburg.de/zentren-kliniken/institute-abteilungen/universitaetsinstitut-fuer-medizinische-genetik
Organization ID: 509260

Personnel

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 27

    Gene

    GeneSubmissionsLast Updated
    BARD11Nov 14, 2023
    BICRA1Jun 6, 2024
    BLM1Jun 6, 2024
    BRCA12Nov 14, 2023
    BRCA22Jun 6, 2024
    C19orf122Jun 6, 2024
    CDH111Jun 6, 2024
    CHEK21Nov 14, 2023
    DCAF81Jun 6, 2024
    GJB21Jun 6, 2024
    GSDME1Jun 6, 2024
    KCNQ21Jun 6, 2024
    KDM5B1Jun 6, 2024
    MEIS21Nov 14, 2023
    MT-ND11Nov 14, 2023
    MT-RNR11Nov 14, 2023
    NF11Jun 6, 2024
    PEX12Jun 6, 2024
    PKD21Nov 14, 2023
    POLR2F1Nov 14, 2023
    SLC12A21Jun 6, 2024
    SOX101Nov 14, 2023
    TNNT21Jun 6, 2024
    TTN1Jun 6, 2024
    TTN-AS11Jun 6, 2024
    TYR1Nov 14, 2023

    Condition

    NameSubmissionsLast Updated
    Autosomal dominant nonsyndromic hearing loss 51Jun 6, 2024
    Autosomal recessive nonsyndromic hearing loss 1A1Jun 6, 2024
    Bloom syndrome1Jun 6, 2024
    Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Nov 14, 2023
    Coffin-Siris syndrome 121Jun 6, 2024
    Delpire-McNeill syndrome1Jun 6, 2024
    Dilated cardiomyopathy 1G1Jun 6, 2024
    Familial cancer of breast5Jun 6, 2024
    Hearing loss, sensorineural, autosomal-mitochondrial type1Nov 14, 2023
    Hypertrophic cardiomyopathy 41Jun 6, 2024
    Intellectual disability, autosomal recessive 651Jun 6, 2024
    Neurodegeneration with brain iron accumulation 41Jun 6, 2024
    Neurofibromatosis, type 12Jun 6, 2024
    Neurofibromatosis-Noonan syndrome1Jun 6, 2024
    Ovarian neoplasm1Nov 14, 2023
    Peroxisome biogenesis disorder 1A (Zellweger)2Jun 6, 2024
    Polycystic kidney disease 21Nov 14, 2023
    SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN1Nov 14, 2023
    Seizures, benign familial neonatal, 11Jun 6, 2024
    Teebi hypertelorism syndrome 21Jun 6, 2024
    Waardenburg syndrome type 4C1Nov 14, 2023