ClinVar Miner

Variants in gene MCCC2

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
50 24 157 81 32 1 304

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3-methylcrotonyl CoA carboxylase 2 deficiency 42 17 125 57 17 1 238
not provided 16 7 18 9 10 0 57
Methylcrotonyl-CoA carboxylase deficiency 3 0 34 2 3 0 42
not specified 0 0 0 23 10 0 31

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 31 12 66 56 9 0 174
Illumina Clinical Services Laboratory,Illumina 0 2 59 6 9 0 76
GeneDx 9 2 4 21 14 0 50
Natera, Inc. 4 0 40 2 3 0 49
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 8 4 12 0 3 0 27
OMIM 10 0 0 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 4 6 0 10
Baylor Genetics 1 1 2 0 0 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 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
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
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
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

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