ClinVar Miner

Variants studied for cone-rod dystrophy 2

Included ClinVar conditions (6):
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
181 49 269 105 123 1 713

Gene and significance breakdown #

Total genes and gene combinations: 60
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CRX 86 17 195 92 72 0 447
PRPH2 5 2 37 8 35 0 87
UNC119 0 0 12 4 14 0 30
ABCA4 15 3 2 0 0 1 21
PROM1 12 1 0 0 0 0 13
LOC130060555, UNC119 0 0 6 1 1 0 8
USH2A 4 1 2 0 0 0 7
CACNA1F 4 1 1 0 0 0 6
GUCY2D 1 3 1 0 0 0 5
CDHR1 2 2 0 0 0 0 4
CEP78 4 0 0 0 0 0 4
CNGA3 1 3 0 0 0 0 4
CRB1 1 1 2 0 0 0 4
TTLL5 3 1 0 0 0 0 4
ABCA4, LOC126805793 2 1 0 0 0 0 3
ABCA4, LOC126805794 2 1 0 0 0 0 3
ADAM9 3 0 0 0 0 0 3
CABP4 1 2 0 0 0 0 3
CERKL 2 1 0 0 0 0 3
GPHN, RDH12 2 1 0 0 0 0 3
RPGRIP1 3 0 0 0 0 0 3
ACBD5 0 0 2 0 0 0 2
CFAP410 0 1 1 0 0 0 2
CLN3 2 0 0 0 0 0 2
GUCA1A, GUCA1ANB-GUCA1A 1 1 0 0 0 0 2
NMNAT1 2 0 0 0 0 0 2
NR2E3 2 0 0 0 0 0 2
PCARE 2 0 0 0 0 0 2
RAB28 1 1 0 0 0 0 2
RPGR 1 1 0 0 0 0 2
ADAM9, LOC130000261 1 0 0 0 0 0 1
AIPL1 0 1 0 0 0 0 1
ALMS1 1 0 0 0 0 0 1
ARL6 0 0 1 0 0 0 1
BICRA, C5AR1, C5AR2, CCDC9, CRX, DHX34, EHD2, INAFM1, KPTN, LINC01595, LOC112552166, LOC116286191, LOC121627882, LOC121627883, LOC121852990, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, MEIS3, NAPA, NOP53, SELENOW, SLC8A2, SNORD23, SULT2A1, TPRX1, TPRX2, ZNF541 0 0 1 0 0 0 1
CACNA2D4 1 0 0 0 0 0 1
CEP290 0 1 0 0 0 0 1
CERKL, ITGA4 1 0 0 0 0 0 1
CERKL, LOC129935214 1 0 0 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 0 1
CNGB3 1 0 0 0 0 0 1
CRX, LINC01595, SULT2A1, TPRX1, TPRX2 0 0 1 0 0 0 1
CRX, SULT2A1 0 0 1 0 0 0 1
CRX, SULT2A1, TPRX1 0 0 1 0 0 0 1
CRX, TPRX2 0 0 0 0 1 0 1
DRAM2 0 1 0 0 0 0 1
FAM161A 1 0 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A, GUCA1B 1 0 0 0 0 0 1
IMPG2 1 0 0 0 0 0 1
LOC125384566, LOC130065345, LOC130065346, LOC130065347, MIR103A2, MIR103B2, PANK2 1 0 0 0 0 0 1
LOC130068202, RP2 1 0 0 0 0 0 1
MFSD8 0 0 1 0 0 0 1
OPA1 0 0 1 0 0 0 1
PANK2 1 0 0 0 0 0 1
PDE6B 1 0 0 0 0 0 1
POC1B 1 0 0 0 0 0 1
RBP3 1 0 0 0 0 0 1
RHO 1 0 0 0 0 0 1
RPE65 0 0 1 0 0 0 1
SSBP1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 81 9 141 84 14 0 329
Illumina Laboratory Services, Illumina 0 0 107 23 113 0 243
Sharon lab, Hadassah-Hebrew University Medical Center 26 9 0 0 0 0 35
Molecular Genetics Laboratory, Institute for Ophthalmic Research 30 0 1 0 0 0 31
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 19 8 4 0 0 0 31
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 7 11 1 0 0 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 6 0 5 0 0 0 11
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 4 1 4 0 0 0 9
OMIM 6 0 0 0 0 0 6
DBGen Ocular Genomics 1 1 3 0 0 0 5
Mendelics 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 0 3
Laboratory of Genetics in Ophthalmology, Institut Imagine 3 0 0 0 0 0 3
3billion, Medical Genetics 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genome-Nilou Lab 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 1 0 0 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 1 0 0 0 0 1

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