ClinVar Miner

Variants studied for hearing loss, autosomal recessive

Included ClinVar conditions (189):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
1426 1193 6080 2013 1212 40 8 175 11243

Gene and significance breakdown #

Total genes and gene combinations: 206
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
DIAPH1 23 7 748 558 41 0 0 0 1356
MYO7A 86 141 395 95 96 0 0 1 678
TBC1D24 63 17 329 238 21 0 0 2 660
MYO15A 150 88 352 20 43 0 0 5 611
CDH23 38 45 386 37 61 0 0 3 543
LOXHD1 26 63 351 77 50 0 0 2 488
SLC26A4 161 148 150 27 7 39 8 1 427
WFS1 23 15 220 102 58 0 0 5 407
OTOF 65 38 192 28 23 0 0 86 370
ACTG1 12 23 58 210 58 0 0 1 348
MYH9 8 2 158 92 37 0 0 1 293
GJB2 93 88 113 34 26 0 0 27 271
MYH14 6 3 150 31 55 0 0 2 244
PCDH15 41 92 66 12 15 0 0 0 222
USH1C 23 67 80 16 37 0 0 0 210
TBCEL-TECTA, TECTA 24 10 147 30 29 0 0 1 193
MYO6 6 3 152 11 16 0 0 0 186
MYO3A 11 8 115 14 31 0 0 0 169
MET 1 0 142 1 5 0 0 0 149
WHRN 4 1 120 7 17 0 0 1 149
TMPRSS3 25 23 80 8 15 0 0 0 139
DCDC2 7 5 51 57 12 0 0 0 127
KCNJ10 4 3 96 18 3 0 0 0 123
TMC1 29 24 70 11 13 0 0 1 123
SIX1 6 5 50 40 12 0 0 0 105
RDX 8 6 80 3 2 0 0 0 99
OTOG 19 14 47 4 11 0 0 1 94
TRIOBP 22 10 33 10 20 0 0 1 90
KCNQ4 26 6 28 10 17 0 0 8 88
SLC17A8 2 1 60 10 14 0 0 0 85
GSDME 7 3 37 13 23 0 0 0 82
ESRRB 6 3 61 4 7 0 0 0 79
LHFPL5 9 3 60 3 5 0 0 0 77
EYA4, TARID 3 3 44 12 15 0 0 0 76
GJB6 4 0 39 19 9 0 0 2 70
TNC 3 0 15 3 48 0 0 0 67
CLDN14 7 5 47 5 7 0 0 0 66
MARVELD2 7 8 49 0 2 0 0 0 63
STRC 21 17 9 8 10 0 0 3 62
COL11A2 7 8 23 4 16 0 0 2 59
C10orf105, CDH23 3 4 41 4 8 0 0 0 57
FOXI1 2 0 44 6 6 0 0 0 57
LOC127814297, POU4F3 13 8 28 1 5 0 0 2 56
PJVK 13 4 38 1 2 0 0 0 54
EYA4 8 2 28 5 9 0 0 0 52
OTOGL 11 13 20 0 5 0 0 3 50
OTOA 13 16 16 0 9 0 0 0 48
TMIE 8 4 33 3 2 0 0 0 47
COCH, LOC100506071 14 4 13 9 7 0 0 0 46
PDZD7 12 11 14 2 8 0 0 1 42
GRXCR1 8 5 18 1 5 0 0 0 35
PTPRQ 4 7 9 2 13 0 0 2 35
ANAPC15, LRTOMT, TOMT 1 2 28 0 1 0 0 0 32
CDH23, PSAP 0 0 20 3 7 0 0 0 29
PNPT1 9 1 9 1 6 0 0 1 27
ILDR1 11 8 8 0 3 0 0 0 26
ESPN 7 6 8 4 0 0 0 0 24
LOC123956210, SLC26A4 14 6 3 3 0 1 0 0 22
LOC126861365, TBCEL-TECTA, TECTA 2 2 16 3 3 0 0 0 21
BDP1 1 0 5 1 12 0 0 1 20
GIPC3 7 3 5 4 1 0 0 0 20
CCDC50 2 0 5 0 11 0 0 0 18
TPRN 6 2 7 0 4 0 0 0 18
COCH 0 0 8 6 3 0 0 0 17
LRTOMT, TOMT 6 2 11 0 0 0 0 0 17
CDC14A 8 4 2 1 3 0 0 0 16
DIAPH3 3 0 8 2 4 0 0 0 16
LOC112840921, OTOF 1 6 9 2 1 0 0 1 16
CEACAM16 6 1 6 2 0 0 0 0 15
DCDC2, KAAG1 1 0 5 8 1 0 0 0 15
P2RX2 2 0 7 1 4 0 0 1 15
ANAPC15, LRTOMT 0 0 13 1 0 0 0 0 14
ACTG1, LOC130061940 1 1 1 6 7 0 0 0 13
EPS8 2 3 5 3 0 0 0 2 13
GJB3 5 0 4 3 1 0 0 0 13
SLC26A5 3 1 5 1 5 0 0 0 13
EPS8L2 4 0 4 0 4 0 0 0 12
KARS1 3 1 5 2 1 0 0 0 12
LOC126863137, MYH9 0 0 4 6 2 0 0 0 12
LRRC51, LRTOMT 1 0 11 0 2 0 0 0 12
CABP2 2 5 4 1 1 0 0 0 11
CRYM 2 0 5 1 3 0 0 0 11
LMX1A 4 2 3 0 2 0 0 0 11
MPZL2 6 7 0 0 0 0 0 0 11
SERPINB6 1 1 3 1 5 0 0 0 11
CDH23, LOC111982869 1 2 7 0 0 0 0 0 10
HGF 3 0 3 1 3 0 0 0 10
LOC129992166, WFS1 0 0 7 3 0 0 0 0 10
MIR9718, SIX1 0 0 9 1 0 0 0 0 10
OSBPL2 4 0 2 0 4 0 0 0 10
RIPOR2 2 1 2 1 4 0 0 0 10
TMEM132E 3 0 4 1 2 0 0 0 10
CIB2 4 3 3 1 0 0 0 0 9
MSRB3 3 4 3 0 0 0 0 0 9
SPNS2 2 0 0 1 6 0 0 0 9
ADCY1 1 0 1 1 5 0 0 0 8
LRTOMT, NUMA1 0 0 7 1 0 0 0 0 8
MCM2 1 1 4 0 2 0 0 0 8
MYO1A 0 0 4 4 0 0 0 0 8
ROR1 1 0 2 1 4 0 0 0 8
TSPEAR 0 0 6 2 0 0 0 0 8
WBP2 3 1 1 0 3 0 0 0 8
GRHL2 1 0 2 1 3 0 0 0 7
NARS2 1 2 2 0 2 0 0 1 7
SYNE4 2 1 2 0 2 0 0 0 7
CLIC5 2 1 2 1 0 0 0 0 6
ESRP1 2 0 0 0 4 0 0 0 6
KITLG 2 2 1 1 0 0 0 0 6
LRTOMT 0 0 6 0 0 0 0 0 6
USH2A 1 3 1 0 0 0 0 0 5
ATP2B2 2 0 1 0 0 0 0 1 4
DIABLO 1 0 2 0 1 0 0 0 4
GRXCR2 2 0 1 0 1 0 0 0 4
HOMER2 3 0 1 0 0 0 0 0 4
LOC105371566, MYO15A 0 0 4 0 0 0 0 0 4
S1PR2 2 0 1 0 1 0 0 0 4
AFG2B 3 0 0 0 0 0 0 0 3
CLDN9 2 1 0 0 0 0 0 0 3
ELMOD3 1 0 1 1 0 0 0 0 3
FRMD5, STRC 3 0 0 0 0 0 0 0 3
GPSM2 2 1 0 0 0 0 0 0 3
KARS1, LOC126862402 1 1 2 0 0 0 0 0 3
LHFPL5, LOC129996260 0 0 3 0 0 0 0 0 3
LOC105378311, PCDH15 2 0 1 0 0 0 0 0 3
LOC112695089, MYH9 0 0 3 0 0 0 0 0 3
LOC126653398, TSPEAR 1 0 1 0 0 0 0 1 3
LOC126861538, MYO1A 0 0 2 2 0 0 0 0 3
LOC129933334, OTOF 1 0 2 0 0 0 0 1 3
LOC130060418, MYO15A 2 0 1 0 0 0 0 0 3
MINAR2 3 0 0 0 0 0 0 0 3
REST 2 0 0 1 0 0 0 0 3
ANKRD36 0 2 0 0 0 0 0 0 2
CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRC 1 1 0 0 0 0 0 0 2
CATSPER2, CKMT1B, STRC 2 0 0 0 0 0 0 0 2
CCNF, TBC1D24 0 0 2 1 0 0 0 0 2
CIB2, LOC130057683 0 0 2 0 0 0 0 0 2
CLRN2 1 0 1 0 0 0 0 0 2
CRYL1, GJB6 1 0 1 0 0 0 0 0 2
CRYM, LOC130058620 0 0 2 0 0 0 0 0 2
GPR156 2 2 0 0 0 0 0 0 2
GSDME, LOC129998098 0 0 0 1 1 0 0 0 2
GSDME, LOC129998104 0 0 2 0 0 0 0 0 2
LOC126863145, TRIOBP 0 0 2 0 0 0 0 0 2
LOC130055766, SIX1 0 0 2 0 0 0 0 0 2
LOC130060416, MYO15A 1 0 1 0 0 0 0 0 2
MIR96 2 0 0 0 0 0 0 0 2
PPIP5K2 1 0 1 0 0 0 0 0 2
TJP2 2 0 0 0 0 0 0 0 2
TMTC4 2 0 0 0 0 0 0 0 2
TRIO 0 1 1 0 0 0 0 0 2
USH1G 0 2 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 0 0 0 0 1
ADGRV1 0 1 0 0 0 0 0 0 1
AFG2B, LOC130056998 1 0 0 0 0 0 0 0 1
ANAPC15, LRTOMT, MYH9, TOMT 0 1 0 0 0 0 0 0 1
ATP11A 1 0 0 0 0 0 0 0 1
B3GNT4, DIABLO 0 0 1 0 0 0 0 0 1
BSND 0 1 0 0 0 0 0 0 1
CATSPER2, CKMT1A, CKMT1B, LOC130056948, LOC130056949, STRC 1 0 0 0 0 0 0 0 1
CATSPER2, CKMT1B, PPIP5K1, STRC 1 0 0 0 0 0 0 0 1
CATSPER2, LOC130056948, LOC130056949, STRC 1 0 0 0 0 0 0 0 1
CD164 1 1 0 0 0 0 0 0 1
CDH23, VSIR 0 0 0 1 0 0 0 0 1
CIB2, SH2D7 0 1 0 0 0 0 0 0 1
CLCNKA, LOC106501712 0 1 0 0 0 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, LOC112163647, LOC121466728, LOC124849292, LOC126861703, LOC126861704, LOC126861705, LOC130009312, LOC130009313, LOC130009314, LOC130009315, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC130009325, LOC130009326, LOC130009327, LOC130009328, LOC130009329, LOC132090175, MIR4499, XPO4 0 0 1 0 0 0 0 0 1
CRYL1, GJB2, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 0 0 0 1
CRYL1, GJB2, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, MIR4499 1 0 0 0 0 0 0 0 1
CRYL1, GJB6, LOC112163647, LOC126861704, LOC126861705, LOC130009316, LOC130009317, LOC130009318, LOC130009319, LOC130009320, LOC130009321, LOC130009322, LOC130009323, LOC130009324, LOC132090175, MIR4499 1 0 0 0 0 0 0 0 1
DELEC1, PAPPA, TNC, TNFSF8 0 0 1 0 0 0 0 0 1
EDNRB 0 1 0 0 0 0 0 0 1
EPS8L2, LOC130005076 0 0 1 0 0 0 0 0 1
EYA4, LOC126859796, TARID 0 0 1 0 0 0 0 0 1
GAB1 1 0 0 0 0 0 0 0 1
GJB2, GJB6 0 0 1 0 0 0 0 0 1
GJB4 0 0 1 0 0 0 0 0 1
GOSR2, LRRC37A2 0 1 0 0 0 0 0 0 1
GRAP 1 1 0 0 0 0 0 0 1
GREB1L, LOC101927521 0 0 1 0 0 0 0 0 1
GRHL2, LOC126860461 1 0 0 0 0 0 0 0 1
HERC2 0 0 0 0 0 0 0 1 1
IGSF6, LOC130058625, LOC130058626, LOC130058627, METTL9, OTOA 1 0 0 0 0 0 0 0 1
IGSF6, METTL9, NPIPB4, OTOA, UQCRC2 1 0 0 0 0 0 0 0 1
IGSF6, METTL9, OTOA 1 0 0 0 0 0 0 0 1
KCNQ4, LOC129930282 1 0 0 0 0 0 0 0 1
KRTAP10-1, TSPEAR 0 0 1 0 0 0 0 0 1
KRTAP10-12, TSPEAR 0 0 0 1 0 0 0 0 1
KRTAP10-3, TSPEAR 0 0 0 1 0 0 0 0 1
LOC121852992, MYH14 0 0 1 0 0 0 0 0 1
LOC124292588, LOC130001864, LOC130001865, LOC130001866, LOC130001867, TJP2 1 0 0 0 0 0 0 0 1
LOC126860741, TNC 0 0 0 0 1 0 0 0 1
LOC129933336, OTOF 0 0 1 0 0 0 0 0 1
LOC129933770, PNPT1 0 1 0 0 0 0 0 0 1
LOC130003092, TMEM203, TPRN 1 0 0 0 0 0 0 0 1
LOC130003093, TPRN 1 0 0 0 0 0 0 0 1
MNAT1, SIX1, SIX4, SIX6, TRMT5 0 0 1 0 0 0 0 0 1
OBSCN 1 0 0 0 0 0 0 0 1
PCDH15, USH1G 1 0 0 0 0 0 0 0 1
PDE1C 0 1 0 0 0 0 0 0 1
PJVK, PRKRA 0 0 0 1 0 0 0 0 1
PLS1 0 1 0 0 0 0 0 0 1
RAI1 1 0 0 0 0 0 0 0 1
SIX1, SIX4, SIX6 0 0 1 0 0 0 0 0 1
STX4 1 0 0 0 0 0 0 0 1
TOGARAM2 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 201
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects other not provided total
Illumina Laboratory Services, Illumina 19 11 3077 485 526 0 0 0 3956
Invitae 95 33 1187 1093 129 0 0 0 2537
Fulgent Genetics, Fulgent Genetics 139 81 758 266 58 0 0 0 1302
Genome-Nilou Lab 37 33 147 56 602 0 0 0 868
Baylor Genetics 183 213 294 0 0 0 0 0 688
Counsyl 51 173 242 45 2 0 0 0 513
OMIM 401 0 7 0 0 0 0 0 408
Natera, Inc. 54 18 175 58 44 0 0 0 349
3billion 70 39 51 1 0 0 0 0 161
University of Washington Center for Mendelian Genomics, University of Washington 0 156 0 0 0 0 0 0 156
Revvity Omics, Revvity 31 34 83 2 0 0 0 0 150
King Laboratory, University of Washington 64 75 0 0 0 0 0 0 139
GeneReviews 13 0 0 0 1 0 0 124 138
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 60 41 6 10 0 0 0 0 116
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 4 27 18 64 0 0 0 113
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 56 25 32 0 0 0 0 0 113
Molecular Diagnosis Center for Deafness 55 23 30 0 1 0 0 0 109
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 37 22 41 1 0 0 0 0 101
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 55 16 0 0 3 0 0 0 74
Division of Human Genetics, Children's Hospital of Philadelphia 13 7 49 0 0 0 0 1 70
Mendelics 18 8 11 6 25 0 0 0 68
Laboratory of Prof. Karen Avraham, Tel Aviv University 63 5 0 0 0 0 0 0 68
WangQJ Lab, Chinese People's Liberation Army General Hospital 10 19 33 0 0 0 0 0 62
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 4 2 0 0 0 40 8 0 54
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 24 5 13 3 5 0 0 0 50
Myriad Genetics, Inc. 15 24 7 0 0 0 0 0 46
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 5 15 24 0 0 0 0 0 44
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 27 16 0 0 0 0 0 0 43
Genomic Research Center, Shahid Beheshti University of Medical Sciences 7 8 23 2 0 0 0 3 42
Centre for Mendelian Genomics, University Medical Centre Ljubljana 9 4 27 0 1 0 0 0 41
Division of Hearing and Balance Research, National Hospital Organization Tokyo Medical Center 39 1 0 0 0 0 0 0 40
Center of Genomic medicine, Geneva, University Hospital of Geneva 21 8 9 0 0 0 0 0 38
National Institute on Deafness and Communication Disorders, National Institutes of Health 35 1 1 0 0 0 0 0 37
Hereditary Research Laboratory, Bethlehem University 35 0 0 0 0 0 0 0 35
GenomeConnect, ClinGen 0 0 0 0 0 0 0 34 34
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 3 1 15 10 4 0 0 0 33
MGZ Medical Genetics Center 16 4 7 0 0 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 6 4 12 3 0 0 0 0 25
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 10 5 7 1 0 0 0 0 23
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 16 4 1 0 0 0 0 0 21
ClinVar Staff, National Center for Biotechnology Information (NCBI) 17 0 0 0 0 0 0 2 19
Knight Diagnostic Laboratories, Oregon Health and Sciences University 9 7 3 0 0 0 0 0 19
SIB Swiss Institute of Bioinformatics 6 9 4 0 0 0 0 0 19
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 6 2 11 0 0 0 0 0 19
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 2 14 0 0 0 0 0 18
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 1 15 0 0 0 0 0 18
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 6 12 0 0 0 0 0 0 18
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 5 7 0 0 0 0 0 17
Precision Medicine Center, Zhengzhou University 11 5 0 0 0 0 0 0 16
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 5 4 6 0 0 0 0 0 15
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 8 1 6 0 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 8 0 0 0 0 0 14
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 11 2 1 0 0 0 0 0 14
Center for Statistical Genetics, Columbia University 11 0 1 0 0 0 0 0 12
Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine 12 0 0 0 0 0 0 0 12
Genomics England Pilot Project, Genomics England 2 10 0 0 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 2 6 0 0 0 0 0 12
Institute of Human Genetics, University of Goettingen 1 4 5 1 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 11 0 0 0 11
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 7 3 0 0 0 0 0 11
Pars Genome Lab 2 1 0 3 6 0 0 0 11
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 1 4 6 0 0 0 0 0 11
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 3 3 0 0 0 0 0 10
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 6 1 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 7 1 2 0 0 0 0 0 10
New York Genome Center 2 0 8 0 0 0 0 0 10
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 2 5 3 0 0 0 0 0 10
DASA 8 1 0 0 0 0 0 0 9
Department of Human Genetics, Hannover Medical School 0 2 7 0 0 0 0 0 9
Hereditary Hearing Loss Research Unit, University of Madras 5 2 1 0 0 0 0 0 8
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 4 0 0 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 8 8
UAEU Genomics Laboratory, United Arab Emirates University 5 1 2 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 5 0 0 0 0 0 0 7
Department of Molecular and Human Genetics, Baylor College of Medicine 7 0 0 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 1 0 0 0 0 0 0 7
Wangler Lab, Baylor College of Medicine 2 1 4 0 0 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 1 0 0 0 0 0 7
Genetics Laboratory, Department of Biology, Semnan University 6 1 0 0 0 0 0 0 7
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 5 0 0 0 0 0 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 6 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 1 1 0 0 0 0 0 6
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 2 3 0 0 0 0 0 6
Laboratory of Human Genetics, Institute of Biosciences - University of Sao Paulo 2 2 2 0 0 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 4 1 1 0 0 0 0 0 6
Genetics Department, Hospital Ramon y Cajal-IRYCIS 6 0 0 0 0 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 3 0 3 0 0 0 0 0 6
Payam Genetics Center, General Welfare Department of North Khorasan Province 5 1 0 0 0 0 0 0 6
Santos-Cortez Lab, University of Colorado School of Medicine 0 5 0 0 0 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 3 0 0 0 5
Lifecell International Pvt. Ltd 3 2 0 0 0 0 0 0 5
Service de Biologie Medicale, CIUSSS du Saguenay-Lac-Saint-Jean 2 2 1 0 0 0 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 3 0 0 0 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 3 1 0 0 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 0 0 4
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 4 0 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 0 0 0 4
Daryl Scott Lab, Baylor College of Medicine 1 0 2 1 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 2 0 0 0 0 0 0 4
Breda Genetics srl 1 0 3 0 0 0 0 0 4
Mustafa Tekin Lab, University Of Miami, Miller School Of Medicine 0 4 0 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 0 0 3
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center 3 0 0 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 0 0 3
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 2 1 0 0 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 2 0 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 3 3
Suma Genomics 3 0 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 2 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 1 2 0 0 0 0 0 3
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences 1 1 1 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 1 0 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 0 2
Institute of Otorhinolaryngology, The First affiliated hospital, Sun Yat-sen University 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 0 0 0 2
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 2 0 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 0 0 2
Human Genetics Research Lab, Central University of Jammu 2 0 0 0 0 0 0 0 2
University of Arizona Genetics Core, University of Arizona 2 0 0 0 0 0 0 0 2
Research Group Niklas Dahl, Uppsala University 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 0 2
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre 0 0 2 0 0 0 0 0 2
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 2 0 0 0 0 0 0 0 2
Tehran Medical Genetics Laboratory 0 2 0 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 0 0 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 2 0 0 0 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 2 0 0 0 0 0 2
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 1 0 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 0 0 2
Laboratory of Molecular Medicine of IMOMA, Instituto de Medicina Oncológica y Molecular de Asturias 1 1 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 0 0 2
Nanfang Hospital, Southern Medical University 2 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 1 0 0 0 0 0 2
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 2 0 0 0 0 0 0 0 2
Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University 2 0 0 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 1 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 0 0 0 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 0 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon 0 0 1 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 0 1 0 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, National Institutes of Health 0 1 0 0 0 0 0 0 1
Hereditary Risk Evalutation Team, Medical School Hannover 0 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 0 1
Genetics, Medical University of Vienna 0 1 0 0 0 0 0 0 1
Leeds Institute of Biomedical and Clinical Sciences, University of Leeds 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 0 0 0 1
Dr. Liu's Molecular Genetics Laboratory, University of Miami Miller School of Medicine 0 1 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 1
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics 0 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 0 0 0 1
Medical Genetic Team, CHRU Montpellier 0 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, Montpellier University Hospital 0 1 0 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences 1 0 0 0 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Lab, Aalborg University Hospital 1 0 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 0 0 1
Division of Human Genetics, University of Cape Town 1 0 0 0 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Tabriz University of Medical Sciences 1 0 0 0 0 0 0 0 1
ColIege of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital 1 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 1
Hebei Molecular Diagnosis Lab for Deafness, the Second Hospital of Hebei Medical University 0 0 1 0 0 0 0 0 1
Young Lab, Memorial University 1 0 0 0 0 0 0 0 1
Epigenetics and Oncology Laboratory, Southwest Medical University 1 0 0 0 0 0 0 0 1
Federation de Genetique et Medecine Genomique, Hopital Necker 0 1 0 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 0 1
Department of Neurology, First People's Hospital of Wuhu 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences 0 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.