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
13 48 204 176 97 1 471

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 7 2 48 125 92 1 264
Familial dysautonomia 7 47 169 36 15 0 254
not specified 0 0 3 32 25 0 60
Charcot-Marie-Tooth disease 0 0 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 5 107 116 34 0 274
GeneDx 1 1 20 41 75 0 138
Illumina Clinical Services Laboratory,Illumina 1 0 63 25 1 0 90
Counsyl 1 43 24 6 0 0 74
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 2 11 0 24
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 1 2 1 4 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 4 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 6
OMIM 3 0 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
Mendelics 0 0 0 0 2 0 2
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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