ClinVar Miner

Variants in gene ELP2

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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 not provided total
10 13 123 38 13 5 179

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 3 0 81 4 0 0 88
not provided 1 4 22 33 11 0 66
Intellectual disability, autosomal recessive 58 8 7 17 0 0 3 29
ELP2-related disorder 0 0 4 9 3 2 18
Intellectual disability, profound 0 5 0 0 0 0 5
not specified 0 0 2 0 0 0 2
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 0 1 0 0 0 1
See cases 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 3 0 81 4 0 0 88
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 23 10 0 34
GeneDx 1 4 15 0 1 0 21
CeGaT Center for Human Genetics Tuebingen 0 1 5 15 0 0 21
PreventionGenetics, part of Exact Sciences 0 0 4 9 3 0 16
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 7 0 13
Baylor Genetics 1 0 9 0 0 0 10
Revvity Omics, Revvity 0 1 4 0 0 0 5
Wainwright Lab, University Of Queensland 0 5 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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