ClinVar Miner

Variants in gene ELP1

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Minimum conflict level:
Gene type:

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
169 364 1113 1107 158 60 2715

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 154 73 536 1074 155 1 1951
Familial dysautonomia 15 299 607 94 49 4 1024
not specified 11 0 337 107 32 0 473
Medulloblastoma; Familial dysautonomia 2 65 229 36 1 0 333
Medulloblastoma 8 12 45 0 0 0 65
ELP1-Associated Medulloblastoma 2 21 6 0 0 0 29
Ovarian serous cystadenocarcinoma 0 0 0 0 0 18 18
ELP1-related disorder 0 2 0 13 2 0 17
Acute myeloid leukemia 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 7 7
Cervical cancer 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 4 4
Nonpapillary renal cell carcinoma 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Charcot-Marie-Tooth disease 0 0 3 0 0 0 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Familial cancer of breast 0 0 0 0 0 3 3
Familial pancreatic carcinoma 0 0 0 0 0 3 3
Hereditary sensory and autonomic neuropathy 0 0 0 3 0 0 3
Lung cancer 0 0 0 0 0 3 3
Lymphoma 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 3 3
Thymoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Ovarian cancer 0 0 0 0 0 2 2
Primary dysautonomia 1 1 0 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 1 1
Gaucher disease 0 0 1 0 0 0 1
Germ cell tumor of testis 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 154 66 491 1019 47 0 1777
Natera, Inc. 1 220 487 80 29 0 817
Ambry Genetics 11 0 320 85 0 0 416
Fulgent Genetics, Fulgent Genetics 3 65 229 36 1 0 334
GeneDx 1 4 65 67 130 0 267
Illumina Laboratory Services, Illumina 1 0 115 11 24 0 151
Breakthrough Genomics, Breakthrough Genomics 0 0 8 22 69 0 99
Counsyl 0 42 24 6 0 0 72
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 11 21 13 9 0 64
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 57 57
Mayo Clinic Laboratories, Mayo Clinic 1 3 22 8 23 0 57
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 5 3 44 0 0 0 52
Myriad Genetics, Inc. 3 48 0 0 0 0 51
CeGaT Center for Human Genetics Tuebingen 1 1 11 33 1 0 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 18 8 14 0 40
Genome-Nilou Lab 0 1 8 3 25 0 37
PreventionGenetics, part of Exact Sciences 0 2 0 13 18 0 33
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 21 6 0 0 0 29
Eurofins Ntd Llc (ga) 1 0 11 1 2 0 15
Clinical Genetics, Academic Medical Center 2 0 2 4 6 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 5 4 0 11
Revvity Omics, Revvity 1 1 4 0 0 0 6
Zero Childhood Cancer Program, Children's Cancer Institute 0 6 0 0 0 0 6
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 0 1 0 3
Inherited Neuropathy Consortium 0 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 1 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Mendelics 0 0 0 0 2 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Dasa 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
SNPedia 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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