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
7 2 173 231 101 469

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 2 36 154 82 271
not specified 0 0 28 110 38 161
Left ventricular noncompaction 8 3 0 118 17 4 142
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
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 117 150 45 312
GeneDx 1 2 34 122 65 224
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 22 28 32 82
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
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
Division of Genomic Diagnostics,The 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
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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