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

General information

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

Personnel

  • Helle Høyer, Principal Investigator
    Phone: +4735003500
    Email: helhoe@sthf.no
  • 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 provided

Summary of submissions to ClinVar

Total submissions: 68

Gene

GeneSubmissionsLast Updated
AARS12Apr 22, 2021
ANXA113Mar 9, 2022
ARHGEF102Oct 31, 2014
ARSK1Mar 7, 2022
ATL11Apr 23, 2021
C9orf722Mar 9, 2022
CCNF2Mar 9, 2022
CNTNAP21Oct 3, 2014
DAO1Mar 9, 2022
DCTN11Oct 31, 2014
DCTN21Dec 14, 2015
DNM21Oct 31, 2014
DYNC1H11Oct 31, 2014
ERBB41Mar 9, 2022
FIG42Mar 9, 2022
GAN3Oct 31, 2014
GARS11Oct 23, 2014
GJB11Oct 31, 2014
GLE11Mar 9, 2022
GLT8D11Mar 9, 2022
HSPB11Oct 31, 2014
KIF1B1Oct 31, 2014
KIF5A1Mar 9, 2022
LAMA21Oct 3, 2014
LMNA1Oct 31, 2014
LOC1019292701Mar 9, 2022
LOC1053710501Mar 9, 2022
LOC1095047282Mar 9, 2022
LOC1268602811Oct 31, 2014
LOC1268607821Mar 9, 2022
LOC1299290322Mar 9, 2022
LOC1300594981Oct 31, 2014
MATR32Mar 9, 2022
MFN21Oct 31, 2014
MTMR22Oct 31, 2014
OPTN2Mar 9, 2022
PFN11Mar 9, 2022
POLG1Aug 6, 2015
POLGARF1Aug 6, 2015
REEP11Jun 20, 2018
RPL131Jul 18, 2022
SEMA5A1Oct 3, 2014
SEPTIN91Oct 31, 2014
SETX8Mar 9, 2022
SH3TC23Oct 31, 2014
SLC12A61Dec 18, 2021
SOD15Mar 9, 2022
SOD1-DT1Mar 9, 2022
SPTLC11Mar 9, 2022
TBK12Mar 9, 2022
TUBA4A1Mar 9, 2022