ClinVar Miner

Variants in gene GPD1

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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
12 10 62 61 14 137

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 1 37 51 14 94
Inborn genetic diseases 0 1 26 9 0 36
Transient infantile hypertriglyceridemia and hepatosteatosis 7 8 10 0 1 23
GPD1-related disorder 1 0 2 6 4 13
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 22 38 11 76
Ambry Genetics 0 1 26 9 0 36
GeneDx 1 0 15 10 5 31
PreventionGenetics, part of Exact Sciences 1 0 2 6 4 13
Breakthrough Genomics, Breakthrough Genomics 0 0 0 8 5 13
OMIM 6 0 0 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 0 2 3 1 6
Baylor Genetics 0 0 4 0 0 4
Clinical Genetics, Academic Medical Center 0 0 2 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 2
3billion 1 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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