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:

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
74 65 127 259 15 498

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HMGCL 70 65 126 259 15 493
GALE, HMGCL 3 0 0 0 0 3
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

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 56 18 89 253 11 427
Genome-Nilou Lab 11 3 26 11 7 58
Baylor Genetics 17 13 2 0 0 32
Counsyl 6 15 10 0 0 31
Illumina Laboratory Services, Illumina 1 0 22 2 4 29
Natera, Inc. 0 0 14 5 3 22
Fulgent Genetics, Fulgent Genetics 8 7 5 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 8 0 0 0 18
Myriad Genetics, Inc. 3 9 2 0 0 14
3billion 4 1 1 0 0 6
OMIM 6 0 0 0 0 6
Revvity Omics, Revvity 3 1 2 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 0 0 0 4
Mendelics 2 0 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Dr.Nikuei Genetic Center 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1

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