ClinVar Miner

Variants in gene PRDM16

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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 total
8 2 312 257 102 632

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Left ventricular noncompaction 8 4 0 258 134 44 440
not provided 2 2 38 82 43 167
not specified 0 0 28 111 39 163
Primary dilated cardiomyopathy 0 0 4 1 0 5
Wolff-Parkinson-White pattern 0 0 4 0 0 4
Dilated cardiomyopathy 1LL 2 0 1 0 0 3
Familial restrictive cardiomyopathy 0 0 2 0 0 2
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Microcephaly 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

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 256 176 45 477
GeneDx 1 2 34 122 65 224
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 22 28 33 83
OMIM 5 0 1 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 4 0 0 4
Klaassen Lab,Charite University Medicine Berlin 0 0 4 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 3
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
Baylor Genetics 1 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Ambry Genetics 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Mendelics 0 0 0 0 1 1
Lineagen, Inc 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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