ClinVar Miner

Variants studied for chronic mucocutaneous candidiasis

Included ClinVar conditions (10):
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 not provided total
69 28 1205 898 146 2 2299

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IL17RA 15 4 415 245 45 0 702
IL17RC 3 1 310 239 37 0 589
STAT1 38 19 185 241 28 2 507
TRAF3IP2 6 3 67 56 12 0 144
IL17F 1 0 87 43 11 0 135
LOC114803478, TRAF3IP2 3 0 54 26 3 0 83
IL17RC, LOC129936144 0 0 37 6 1 0 44
IL17RA, LOC129391259 0 0 14 21 1 0 32
IL17RA, LOC130066894 0 0 13 6 3 0 20
IL17RA, LOC126863094 0 0 7 8 1 0 15
IL17RC, LOC129936143 0 0 9 5 1 0 14
CLEC7A 1 0 2 2 1 0 4
IL17RA, LOC130066893 0 0 1 0 1 0 2
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TSSK2, TUBA8, TXNRD2, UFD1, USP18 1 0 0 0 0 0 1
ANKAR, ASNSD1, C2orf88, COL3A1, COL5A2, GLS, HIBCH, INPP1, MFSD6, MSTN, NAB1, NEMP2, ORMDL1, OSGEPL1, PMS1, SLC40A1, STAT1, STAT4, WDR75 0 0 1 0 0 0 1
BRK1, CIDEC, CRELD1, EMC3, FANCD2, FANCD2OS, IL17RC, IL17RE, JAGN1, PRRT3, VHL 0 0 1 0 0 0 1
CIDEC, CRELD1, EMC3, FANCD2, IL17RC, IL17RE, JAGN1, PRRT3 0 0 1 0 0 0 1
CRELD1, IL17RC, LOC129936144 0 0 0 0 1 0 1
IL17RC, IL17RE, JAGN1 0 0 1 0 0 0 1
IL21R 0 1 0 0 0 0 1
STAT1, STAT4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 22 1042 880 120 0 2106
Illumina Laboratory Services, Illumina 0 1 161 19 32 0 213
OMIM 32 0 0 0 0 0 32
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 10 2 0 0 13
Baylor Genetics 1 0 7 0 0 0 8
Fulgent Genetics, Fulgent Genetics 0 0 4 4 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 2 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 4 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
3billion 2 0 2 0 0 0 4
Mendelics 0 0 0 0 2 0 2
New York Genome Center 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1

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