ClinVar Miner

Variants in gene MOCS1

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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 not provided total
62 51 397 271 48 2 762

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 58 47 364 249 36 1 710
not provided 6 5 30 18 20 1 76
Inborn genetic diseases 0 0 54 6 0 0 60
MOCS1-related disorder 2 2 5 18 1 0 28
not specified 0 0 11 1 3 0 15
Combined molybdoflavoprotein enzyme deficiency 1 1 7 4 0 0 13
Intellectual disability 0 0 0 5 0 0 5
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 47 18 268 235 24 0 592
Illumina Laboratory Services, Illumina 0 0 80 12 24 0 116
Fulgent Genetics, Fulgent Genetics 4 10 69 4 1 0 88
Ambry Genetics 0 0 54 6 0 0 60
GeneDx 3 2 9 0 19 0 33
CeGaT Center for Human Genetics Tuebingen 3 2 10 16 1 0 32
Baylor Genetics 3 23 4 0 0 0 30
PreventionGenetics, part of Exact Sciences 2 2 5 18 1 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 11 1 0 0 19
Department of Pathology and Laboratory Medicine, Sinai Health System 0 4 8 0 2 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 6 3 0 0 9
OMIM 8 0 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 0 0 7 0 0 0 7
Revvity Omics, Revvity 0 0 5 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 5 0 0 5
Mendelics 0 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
3billion 0 0 0 2 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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