Dept. of Medical Genetics (Telemark Hospital Trust), STHF

General information

Dept. of Medical Genetics, STHF
Telemark Hospital Trust
Ulefossv 55
Skien
Telemark
Norway - 3710
https://www.sthf.no/
Organization ID: 506543

Personnel

  • Øyvind Busk, Principal Investigator
    Phone: +4735003500
    Email: oyvind.busk@sthf.no
  • Oystein Holla, Principal Investigator
    Phone: +4735003146
    Email: oholla@sthf.no
  • Helle Høyer, Principal Investigator
    Phone: +4735003500
    Email: helhoe@sthf.no
  • Kristian Tveten, Principal Investigator
    Phone: +4735003500
    Email: ktveten@sthf.no

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 30

    Gene

    GeneSubmissionsLast Updated
    AARS11Oct 31, 2014
    ARHGEF102Oct 31, 2014
    CNTNAP21Oct 3, 2014
    DCTN11Oct 31, 2014
    DCTN21Dec 14, 2015
    DNM21Oct 31, 2014
    DYNC1H11Oct 31, 2014
    GAN3Oct 31, 2014
    GARS11Oct 23, 2014
    GJB11Oct 31, 2014
    HSPB11Oct 31, 2014
    KIF1B1Oct 31, 2014
    LAMA21Oct 3, 2014
    LMNA1Oct 31, 2014
    MFN21Oct 31, 2014
    MTMR22Oct 31, 2014
    POLG1Aug 6, 2015
    REEP11Jun 20, 2018
    SEMA5A1Oct 3, 2014
    SEPTIN91Oct 31, 2014
    SETX3Jun 20, 2018
    SH3TC23Oct 31, 2014

    Condition

    NameSubmissionsLast Updated
    Charcot-Marie-Tooth disease29Jun 20, 2018
    Spasticity1Jun 20, 2018
    Support Center