ClinVar Miner

Variants in gene ACSF3

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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 total
57 22 121 149 33 343

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Combined malonic and methylmalonic aciduria 52 16 50 114 17 226
Methylmalonic acidemia 3 0 64 2 11 80
not specified 0 0 1 35 18 54
not provided 9 6 17 20 0 50
Global developmental delay 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 45 12 25 121 14 217
Natera, Inc. 3 0 84 7 15 109
GeneDx 6 4 10 40 18 78
OMIM 9 0 0 0 0 9
Baylor Genetics 1 1 4 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 3 5
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 1 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 2 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 1 2 0 0 4
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
Lineagen, Inc 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Claritas Genomics 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 1

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