ClinVar Miner

Variants in gene ELP1

Minimum submission review status: Collection method:
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Gene type:
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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
147 153 722 1007 158 3 2049

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 138 68 473 973 150 1 1776
Familial dysautonomia 8 100 405 93 49 3 618
Inborn genetic diseases 11 0 189 57 0 0 257
Medulloblastoma; Familial dysautonomia 1 11 95 35 1 0 143
not specified 0 0 15 26 26 0 63
Medulloblastoma 4 3 26 0 0 0 33
ELP1-related condition 0 2 0 12 2 0 16
Charcot-Marie-Tooth disease 0 0 3 0 0 0 3
Hereditary sensory and autonomic neuropathy 0 0 0 3 0 0 3
Gaucher disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 138 65 447 930 47 0 1627
Natera, Inc. 1 9 285 77 29 0 401
Ambry Genetics 11 0 189 57 0 0 257
GeneDx 1 1 34 67 130 0 233
Illumina Laboratory Services, Illumina 1 0 117 13 24 0 155
Fulgent Genetics, Fulgent Genetics 3 12 95 35 1 0 146
Counsyl 0 42 24 6 0 0 72
Myriad Genetics, Inc. 1 47 0 0 0 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 12 5 9 0 39
Genome-Nilou Lab 0 1 8 3 25 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 13 6 13 0 32
PreventionGenetics, part of Exact Sciences 0 2 0 12 18 0 32
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 2 26 0 0 0 30
CeGaT Center for Human Genetics Tuebingen 0 0 7 14 0 0 21
Eurofins Ntd Llc (ga) 1 0 11 1 2 0 15
Clinical Genetics, Academic Medical Center 2 0 2 4 6 0 14
Mayo Clinic Laboratories, Mayo Clinic 1 2 10 0 0 0 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 2 5 4 0 11
OMIM 5 0 0 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
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
Revvity Omics, Revvity 1 0 1 0 0 0 2
Mendelics 0 0 0 0 2 0 2
GeneReviews 0 0 0 0 0 2 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
SNPedia 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
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
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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