ClinVar Miner

Variants studied for 3-hydroxy-3-methylglutaric aciduria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
58 54 128 246 15 466

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 total
HMGCL 57 54 127 245 14 462
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, ASAP3, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, CNR2, DDOST, E2F2, ECE1, EIF4G3, ELOA, EMC1, EPHA8, EPHB2, FAM43B, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HP1BP3, HSPG2, HTR1D, HTR6, ID3, IFFO2, IFNLR1, IL22RA1, KDM1A, KIF17, LACTBL1, LDLRAD2, LUZP1, LYPLA2, MDS2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, MYOM3, NBL1, NBPF3, OTUD3, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PNRC2, RAP1GAP, RNF186, RPL11, SH2D5, SLC66A1, SRSF10, STPG1, TCEA3, TEX46, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40, ZNF436 0 0 1 0 0 1
FUCA1, HMGCL 1 0 0 0 0 1
GALE, HMGCL 0 0 0 0 1 1
GALE, HMGCL, LOC129929682 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 46 17 88 239 11 401
Genome-Nilou Lab 11 3 26 11 7 58
Illumina Laboratory Services, Illumina 1 0 25 4 4 34
Counsyl 6 15 10 0 0 31
Baylor Genetics 15 13 2 0 0 30
Natera, Inc. 2 1 14 5 3 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 5 0 0 0 13
Fulgent Genetics, Fulgent Genetics 3 1 5 0 0 9
Myriad Genetics, Inc. 0 7 2 0 0 9
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 3 1 2 0 0 6
Mendelics 2 0 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 1

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