ClinVar Miner

Variants studied for 3-methylcrotonyl-CoA carboxylase 1 deficiency

Coded as:
Minimum submission review status: Collection method:
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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
122 105 241 308 29 1 735

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCCC1 121 103 237 305 26 1 723
LOC129938008, MCCC1 0 2 4 3 3 0 11
ABCC5, ABCF3, ALG3, AP2M1, B3GNT5, CAMK2N2, CLCN2, DVL3, ECE2, EIF2B5, EIF4G1, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, THPO, VWA5B2, YEATS2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 109 44 192 304 18 0 667
Baylor Genetics 29 63 8 0 0 0 100
Natera, Inc. 6 3 46 6 2 0 63
Illumina Laboratory Services, Illumina 1 0 31 3 4 0 39
Revvity Omics, Revvity 4 7 18 0 0 0 29
Fulgent Genetics, Fulgent Genetics 6 8 9 0 1 0 24
Pars Genome Lab 0 0 0 1 10 0 11
Genome-Nilou Lab 0 0 6 1 3 0 10
OMIM 7 0 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 0 1 0 0 0 1

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