ClinVar Miner

Variants studied for Methylmalonic acidemia with homocystinuria, type cblX

Coded as:
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 total
6 2 116 686 267 1064

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
HCFC1 6 1 111 672 255 1032
HCFC1, LOC130068842 0 0 4 14 12 30
CENPT, THAP11 0 1 0 0 0 1
FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 75 681 266 1023
Revvity Omics, Revvity 0 0 22 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 2 6 8
Genome-Nilou Lab 0 0 0 0 8 8
Baylor Genetics 1 0 6 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 7
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 2 0 0 3
New York Genome Center 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics, University of Ulm 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Shaikh Laboratory, University of Colorado 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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