ClinVar Miner

Variants in gene MCCC2

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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 not provided total
98 125 260 302 73 3 760

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3-methylcrotonyl-CoA carboxylase 2 deficiency 92 116 213 258 30 1 642
not provided 17 17 24 36 52 2 143
Methylcrotonyl-CoA carboxylase deficiency 6 8 34 2 3 0 53
not specified 0 0 15 21 10 0 44
Inborn genetic diseases 1 1 22 0 0 0 24
MCCC2-related condition 1 3 7 10 1 0 22
Autism spectrum disorder 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 85 52 135 252 15 0 539
GeneDx 10 10 10 47 56 0 133
Baylor Genetics 16 67 4 0 0 0 87
Natera, Inc. 10 4 60 4 4 0 82
Illumina Laboratory Services, Illumina 0 2 59 6 9 0 76
PreventionGenetics, part of Exact Sciences 1 3 7 14 7 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 15 0 2 0 30
Eurofins Ntd Llc (ga) 8 4 12 0 3 0 27
Ambry Genetics 1 1 22 0 0 0 24
Revvity Omics, Revvity 4 5 9 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 5 6 1 0 0 12
Pars Genome Lab 0 0 0 1 11 0 12
CeGaT Center for Human Genetics Tuebingen 2 2 3 4 0 0 11
OMIM 10 0 0 0 0 0 10
Genome-Nilou Lab 2 1 4 0 1 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 2 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 1 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 1 0 0 0 1
Gene Friend Way, National Innovation Center 1 0 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 1 0 0 0 0 0 1

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