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
66 56 128 246 15 475

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 62 56 127 245 14 468
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 53 17 88 239 11 408
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 7 0 0 0 15
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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 0 1 1 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 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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