ClinVar Miner

Variants in gene PRDM16

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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 total
10 7 637 571 149 1253

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Left ventricular noncompaction 8 5 4 544 450 66 1060
not provided 2 3 146 185 65 386
not specified 0 0 29 79 79 163
Inborn genetic diseases 1 0 51 7 0 59
PRDM16-related condition 0 0 6 33 12 51
Primary dilated cardiomyopathy 0 0 5 1 0 6
Left ventricular noncompaction cardiomyopathy 3 0 1 0 0 4
Wolff-Parkinson-White pattern 0 0 4 0 0 4
Cardiomyopathy, dilated, 1LL 2 0 1 0 0 3
Familial restrictive cardiomyopathy 0 0 2 0 0 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
PRDM16-related congenital heart disease 0 0 1 0 0 1
Primary dilated cardiomyopathy; Sudden unexplained death 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 533 454 64 1051
GeneDx 1 3 124 178 75 380
Clinical Genetics, Academic Medical Center 0 0 16 6 64 86
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 22 27 34 83
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 11 34 26 71
Ambry Genetics 1 0 51 7 0 59
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 6 27 23 56
PreventionGenetics, part of Exact Sciences 0 0 6 33 12 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 12 29 45
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 15 20 0 35
CeGaT Center for Human Genetics Tuebingen 0 0 3 25 6 34
Fulgent Genetics, Fulgent Genetics 0 0 19 6 2 27
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 5 12 21
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 5 1 7
Klaassen Lab, Charite University Medicine Berlin 3 0 4 0 0 7
OMIM 5 0 1 0 0 6
Revvity Omics, Revvity 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 4 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
New York Genome Center 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
Baylor Genetics 1 1 0 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 2 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Genetics and Genomics Program, Sidra Medicine 0 0 1 1 0 2
Loeys Lab, Universiteit Antwerpen 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Bionano Laboratories 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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