ClinVar Miner

Variants in gene CFC1

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
3 0 23 9 12 3 44

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign benign not provided total
not provided 0 11 6 5 0 19
Inborn genetic diseases 0 10 3 0 0 13
not specified 0 2 0 9 0 11
Heterotaxy, visceral, 2, autosomal 3 2 0 2 3 9

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic uncertain significance likely benign benign not provided total
GeneDx 0 11 1 9 0 21
Ambry Genetics 0 10 3 0 0 13
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 4 1 0 5
OMIM 3 0 0 0 0 3
Mendelics 0 1 0 2 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 0 3
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 3 3
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1

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