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:
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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
118 94 241 308 29 1 726

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 117 92 237 305 26 1 714
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 106 43 192 304 18 0 663
Baylor Genetics 26 48 8 0 0 0 82
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
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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
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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