ClinVar Miner

Variants in gene CDT1

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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
18 7 220 187 58 1 455

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 10 5 139 164 58 0 367
Inborn genetic diseases 0 0 104 5 0 0 109
not specified 0 0 16 17 19 0 44
Meier-Gorlin syndrome 4 9 2 9 2 5 1 28
CDT1-related disorder 0 0 0 14 3 0 17
Adenine phosphoribosyltransferase deficiency 0 0 0 1 0 0 1
Meier-Gorlin syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 2 127 155 40 0 334
Ambry Genetics 0 0 104 5 0 0 109
Genetic Services Laboratory, University of Chicago 1 0 21 15 10 0 47
Breakthrough Genomics, Breakthrough Genomics 0 0 6 3 35 0 44
GeneDx 0 2 7 4 30 0 43
PreventionGenetics, part of Exact Sciences 0 0 0 14 12 0 26
CeGaT Center for Human Genetics Tuebingen 0 0 6 7 2 0 15
OMIM 5 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 0 5
Genome-Nilou Lab 0 0 0 0 4 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 2 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 2 0 3
Mendelics 0 0 0 0 2 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 0 0 0 2
Bicknell laboratory, University of Otago 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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