ClinVar Miner

Variants in gene DIS3L2

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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
41 10 757 272 33 1086

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Perlman syndrome 40 9 755 244 33 1055
not provided 1 0 9 45 0 55
not specified 0 0 0 0 3 3
Nephroblastoma 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 36 8 698 263 23 1028
Illumina Clinical Services Laboratory,Illumina 0 0 76 7 16 99
Fulgent Genetics,Fulgent Genetics 0 0 14 0 0 14
Baylor Genetics 0 1 8 0 0 9
OMIM 4 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 1 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 3
Gharavi Laboratory,Columbia University 0 0 3 0 0 3
GeneDx 0 0 2 0 0 2
Lineagen, Inc 1 0 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 1

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