ClinVar Miner

Variants studied for Deficiency of hydroxymethylglutaryl-CoA lyase

Coded as:
Minimum submission review status: Collection method:
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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
69 59 128 257 15 490

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 65 59 127 256 14 483
GALE, HMGCL 3 0 0 0 1 4
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, LOC129929682 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 55 18 89 250 11 423
Genome-Nilou Lab 11 3 26 11 7 58
Illumina Laboratory Services, Illumina 1 1 24 4 4 34
Baylor Genetics 17 13 2 0 0 32
Counsyl 6 15 10 0 0 31
Natera, Inc. 2 1 14 5 3 25
Fulgent Genetics, Fulgent Genetics 8 7 5 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 7 0 0 0 15
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 2
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
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 2
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, Medical Genetics 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 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
Dr.Nikuei Genetic Center 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1

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