ClinVar Miner

Variants studied for inherited glutathione metabolism disease

Included ClinVar conditions (9):
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
67 52 276 388 70 1 817

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OPLAH 21 18 143 167 54 0 387
GSS 35 28 77 210 8 0 340
GSR 3 2 28 9 3 0 45
GCLC 2 0 19 0 0 0 21
GSR, LOC130000170 0 1 5 1 4 0 10
GPX4 4 3 2 0 0 1 8
GGT1 1 0 1 0 1 0 3
​intergenic 0 0 1 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, C20orf173, CBFA2T2, CDK5RAP1, CEP250, CHMP4B, CPNE1, DNMT3B, DYNLRB1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ERGIC3, FAM83C, GDF5, GGT7, GSS, ITCH, MAP1LC3A, MAPRE1, MIR499A, MMP24, MYH7B, NCOA6, NECAB3, NFS1, PIGU, PROCR, PXMP4, RALY, RBM12, SNTA1, SPAG4, SUN5, TP53INP2, TRPC4AP, UQCC1, ZNF341 1 0 0 0 0 0 1
MIR6846, OPLAH 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 50 9 182 365 60 0 666
Fulgent Genetics, Fulgent Genetics 5 24 26 24 3 0 82
Revvity Omics, Revvity 0 4 40 1 0 0 45
Illumina Laboratory Services, Illumina 1 0 27 5 3 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 12 9 7 0 28
OMIM 19 0 0 0 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 7 0 1 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 3 0 0 0 7
Baylor Genetics 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Motol Hospital 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 0 0 0 1 1

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