ClinVar Miner

Variants in gene PRDM16

Minimum submission review status: Collection method:
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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 2 127 145 56 303

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Left ventricular noncompaction 8 3 0 80 63 40 186
not specified 0 0 28 109 37 159
not provided 2 2 28 0 1 33
Wolff-Parkinson-White pattern 0 0 4 0 0 4
Dilated cardiomyopathy 1LL 2 0 1 0 0 3
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 79 63 40 182
GeneDx 1 2 34 98 25 160
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 22 27 30 79
OMIM 5 0 1 0 0 6
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 4 0 0 4
Fulgent Genetics 0 0 3 0 0 3
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
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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