ClinVar Miner

Variants studied for cataract 9 multiple types

Included ClinVar conditions (1):
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
9 4 34 18 9 70

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CRYAA 9 4 33 18 9 69
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 1 16 16 6 46
Illumina Laboratory Services, Illumina 0 0 18 2 8 28
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 2 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Molecular Medicine, University of Pavia 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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