ClinVar Miner

Variants in gene QARS1

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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
22 16 214 131 20 382

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 22 7 201 51 1 279
not provided 0 7 23 46 13 86
not specified 0 0 2 74 9 85
Inborn genetic diseases 0 0 2 0 0 2
Insomnia; Seizures; Heterotopia; Cortical visual impairment; Hypoplasia of the corpus callosum; Microcephaly; Strabismus; Impaired use of nonverbal behaviors; Short foot; Profound global developmental delay; Small hand 0 2 0 0 0 2
Attention deficit hyperactivity disorder 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
See cases 0 0 0 0 1 1
Seizures; Intellectual disability; Postnatal microcephaly 0 0 1 0 0 1
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 17 4 199 76 14 310
GeneDx 0 5 14 74 9 102
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 0 0 9
Athena Diagnostics Inc 0 0 4 0 3 7
Baylor Genetics 3 0 2 0 0 5
OMIM 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Ambry Genetics 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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