ClinVar Miner

Variants in gene MCCC1

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
65 19 152 85 26 1 318

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
3 Methylcrotonyl-CoA carboxylase 1 deficiency 55 14 121 57 11 1 244
not provided 26 6 10 15 12 0 67
Methylcrotonyl-CoA carboxylase deficiency 8 2 35 1 5 0 51
not specified 0 0 0 25 10 0 34
See cases 0 0 1 1 0 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 51 12 88 64 6 0 221
GeneDx 11 4 1 23 17 0 56
Natera, Inc. 8 1 38 5 4 0 56
Illumina Clinical Services Laboratory,Illumina 1 0 38 3 5 0 47
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 2 9 0 3 0 29
Baylor Genetics 1 2 6 0 0 0 9
PreventionGenetics, PreventionGenetics 0 0 0 4 5 0 9
OMIM 7 0 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 0 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
ISCA site 6 0 0 0 1 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
Nilou-Genome Lab 0 0 0 1 0 0 1

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