ClinVar Miner

Variants studied for 3-methylglutaconic aciduria, type VIIB

Included ClinVar conditions (2):
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
35 12 299 201 23 20 565

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CLPB 25 9 227 156 19 16 433
CLPB, LOC130006336 2 1 47 23 3 0 76
CLPB, LOC126861258 7 2 24 22 1 4 54
ANAPC15, ARAP1, ARHGEF17, ARRB1, ATG16L2, C2CD3, CHRDL2, CLPB, COA4, DEFB108B, DHCR7, DNAJB13, FAM168A, FAM86C1P, FCHSD2, FOLR1, FOLR2, FOLR3, GDPD5, IL18BP, INPPL1, KCNE3, KLHL35, KRTAP5-10, KRTAP5-11, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAMTOR1, LIPT2, LRTOMT, MIR139, MIR326, MRPL48, NADSYN1, NEU3, NUMA1, OR2AT4, P2RY2, P2RY6, P4HA3, PAAF1, PDE2A, PGM2L1, PHOX2A, PLEKHB1, POLD3, PPME1, RAB6A, RELT, RNF121, RNF169, RPS3, SERPINH1, SLCO2B1, SNORD15A, SPCS2, STARD10, TPBGL, UCP2, UCP3, XRRA1, ZNF705E 0 0 1 0 0 0 1
CLPB, LOC124500684, LOC126861258, LOC126861259, LOC130006330, LOC130006331, LOC130006332, LOC130006333, LOC130006334, LOC130006335, LOC130006336 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 23 8 288 201 23 0 543
GeneReviews 0 0 0 0 0 20 20
OMIM 15 0 0 0 0 0 15
Baylor Genetics 1 2 9 0 0 0 12
Fulgent Genetics, Fulgent Genetics 1 1 3 1 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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