Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery (Institute of Otolaryngology, Chinese PLA General Hospital), DGTC

General information

Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, DGTC
Institute of Otolaryngology, Chinese PLA General Hospital
Beijing
China

Organization ID: 506993

Personnel

  • YONGYI YUAN, Principal Investigator
    Phone: +8613311255627
    Email: yyymzh@163.com

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 191

Gene

GeneSubmissionsLast Updated
ACTG11Apr 29, 2019
ADGRV16Apr 29, 2019
ANAPC151Apr 29, 2019
C10orf1051Apr 29, 2019
CDH234Apr 29, 2019
CLDN141Apr 29, 2019
COL1A12Aug 12, 2019
COL9A21Aug 12, 2019
DIAPH11Aug 12, 2019
DSPP2Aug 12, 2019
EDNRB1Apr 29, 2019
ERCC23Apr 29, 2019
ERCC31Apr 29, 2019
FGF31Apr 29, 2019
FGFR31Apr 29, 2019
GIPC31Apr 29, 2019
GJB214Aug 12, 2019
GJB31Apr 29, 2019
ILDR11Apr 29, 2019
KCNQ11Apr 29, 2019
KCNQ41Apr 29, 2019
LOC10537156610Aug 12, 2019
LOXHD12Aug 12, 2019
LRTOMT1Apr 29, 2019
MARVELD21Apr 29, 2019
MITF15Dec 17, 2020
MYO15A13Aug 12, 2019
MYO3A3Apr 29, 2019
MYO7A7Aug 12, 2019
NDRG11Aug 12, 2019
OTOF3Apr 29, 2019
PAX313Dec 17, 2020
PCDH153Apr 29, 2019
POLR2F19Dec 17, 2020
POU3F41Apr 29, 2019
PROKR21Aug 12, 2019
PTPN119Aug 12, 2019
SALL11Aug 12, 2019
SIX11Aug 12, 2019
SLC26A429Apr 29, 2019
SLC26A4-AS12Apr 29, 2019
SOX1020Dec 17, 2020
STRC1Apr 29, 2019
TBC1D241Aug 12, 2019
TBCEL-TECTA4Aug 12, 2019
TECTA4Aug 12, 2019
TMC13Apr 29, 2019
TMPRSS31Apr 29, 2019
TNC1Aug 12, 2019
TOMT1Apr 29, 2019
TPRN2Apr 29, 2019
TRIOBP4Apr 29, 2019
USH1C2Apr 29, 2019
USH1G1Apr 29, 2019
USH2A2Apr 29, 2019
USH2A-AS11Apr 29, 2019
WHRN1Apr 29, 2019

Condition

NameSubmissionsLast Updated
Autosomal dominant nonsyndromic deafness 2A1Apr 29, 2019
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1Apr 29, 2019
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1Apr 29, 2019
Deafness, X-linked 21Apr 29, 2019
Deafness, autosomal dominant 11Aug 12, 2019
Deafness, autosomal dominant 111Aug 12, 2019
Deafness, autosomal dominant 123Aug 12, 2019
Deafness, autosomal dominant 201Apr 29, 2019
Deafness, autosomal dominant 231Aug 12, 2019
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12Aug 12, 2019
Deafness, autosomal dominant 3a2Aug 12, 2019
Deafness, autosomal dominant 561Aug 12, 2019
Deafness, autosomal dominant 651Aug 12, 2019
Deafness, autosomal recessive 124Apr 29, 2019
Deafness, autosomal recessive 151Apr 29, 2019
Deafness, autosomal recessive 161Apr 29, 2019
Deafness, autosomal recessive 182Apr 29, 2019
Deafness, autosomal recessive 1A13Apr 29, 2019
Deafness, autosomal recessive 26Apr 29, 2019
Deafness, autosomal recessive 211Apr 29, 2019
Deafness, autosomal recessive 233Apr 29, 2019
Deafness, autosomal recessive 284Apr 29, 2019
Deafness, autosomal recessive 291Apr 29, 2019
Deafness, autosomal recessive 313Aug 12, 2019
Deafness, autosomal recessive 303Apr 29, 2019
Deafness, autosomal recessive 311Apr 29, 2019
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct29Apr 29, 2019
Deafness, autosomal recessive 421Apr 29, 2019
Deafness, autosomal recessive 491Apr 29, 2019
Deafness, autosomal recessive 631Apr 29, 2019
Deafness, autosomal recessive 73Apr 29, 2019
Deafness, autosomal recessive 772Aug 12, 2019
Deafness, autosomal recessive 792Apr 29, 2019
Deafness, autosomal recessive 81Apr 29, 2019
Deafness, autosomal recessive 93Apr 29, 2019
Kallmann syndrome 31Aug 12, 2019
LEOPARD syndrome 12Aug 12, 2019
Long QT syndrome 11Apr 29, 2019
Noonan syndrome 17Aug 12, 2019
Osteogenesis imperfecta, recessive perinatal lethal2Aug 12, 2019
Stickler syndrome, type 51Aug 12, 2019
Usher syndrome, type 1G1Apr 29, 2019
Usher syndrome, type 2A2Apr 29, 2019
Usher syndrome, type 2C6Apr 29, 2019
Waardenburg syndrome type 114Dec 17, 2020
Waardenburg syndrome type 2A14Dec 17, 2020
Waardenburg syndrome type 2E20Dec 17, 2020
Waardenburg syndrome type 4A1Apr 29, 2019
Xeroderma pigmentosum, complementation group b1Apr 29, 2019
Xeroderma pigmentosum, group D3Apr 29, 2019
not specified2Aug 12, 2019
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