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
4 45 177 79 39 1 292

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial dysautonomia 4 44 154 53 22 0 251
not specified 0 0 4 31 25 0 60
not provided 1 1 32 3 7 1 43

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 2 80 20 19 0 124
Illumina Clinical Services Laboratory,Illumina 1 0 63 25 1 0 90
GeneDx 1 1 20 31 19 0 72
Counsyl 1 41 24 6 0 0 72
PreventionGenetics 0 0 0 0 16 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 11 1 2 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 9 2 3 0 14
Integrated Genetics/Laboratory Corporation of America 1 1 3 0 4 0 9
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 4 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
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

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