ClinVar Miner

Variants in gene ELP1

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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
47 59 436 261 103 1 826

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 46 20 224 221 92 1 589
Familial dysautonomia 6 49 311 53 39 0 430
not specified 0 0 5 32 25 0 62
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 46 19 235 214 34 0 548
Natera, Inc. 1 1 169 34 14 0 219
Illumina Clinical Services Laboratory,Illumina 1 0 117 13 24 0 155
GeneDx 1 1 20 41 75 0 138
Counsyl 0 42 24 6 0 0 72
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 11 2 13 0 26
PreventionGenetics, PreventionGenetics 0 0 0 0 16 0 16
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 11 1 2 0 15
Integrated Genetics/Laboratory Corporation of America 1 3 4 1 5 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 7 1 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 4 0 6
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 1 2 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
Mendelics 0 0 0 0 2 0 2
Myriad Women's Health, Inc. 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 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 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

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