ClinVar Miner

Variants studied for ear malformation

Included ClinVar conditions (11):
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 total
46 38 54 12 57 202

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PLCB4 13 5 49 12 55 130
EDN1 4 0 1 0 2 7
MYO7A 4 3 0 0 0 7
GNAI3 2 2 3 0 0 6
MYO15A 2 4 0 0 0 6
USH2A 5 1 0 0 0 6
CDH23 0 3 0 0 0 3
GJB2 3 0 0 0 0 3
SLC26A4 1 2 0 0 0 3
​intergenic 1 0 1 0 0 2
CDC14A 0 2 0 0 0 2
OTOF 1 1 0 0 0 2
PTPRQ 0 2 0 0 0 2
ADGRV1 0 1 0 0 0 1
AIFM1, RAB33A 0 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
C10orf105, CDH23 0 1 0 0 0 1
CEACAM16 0 1 0 0 0 1
COL11A2 1 0 0 0 0 1
GNAI3, LOC129931108 1 0 0 0 0 1
HDAC9, LOC110120728, LOC110121290, LOC110121291, LOC126859954, LOC129998019, LOC129998020 1 0 0 0 0 1
KCNQ1 1 0 0 0 0 1
LHFPL5 0 1 0 0 0 1
MARVELD2 1 0 0 0 0 1
MITF 1 0 0 0 0 1
MYO6 0 1 0 0 0 1
PCDH15 0 1 0 0 0 1
PDZD7 0 1 0 0 0 1
PJVK 1 0 0 0 0 1
POU3F4 0 1 0 0 0 1
SLC19A2 1 0 0 0 0 1
TBCEL-TECTA, TECTA 0 1 0 0 0 1
TMC1 1 0 0 0 0 1
TMIE 0 1 0 0 0 1
TMPRSS3 0 1 0 0 0 1
TPRN 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 1 0 44 10 54 109
Kariminejad - Najmabadi Pathology & Genetics Center 23 31 0 0 0 54
OMIM 18 0 0 0 0 18
University of Washington Center for Mendelian Genomics, University of Washington 6 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 6
3billion 0 1 2 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Tammimies Lab, Karolinska Institutet 1 0 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 1

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