ClinVar Miner

Variants in gene MARS1

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Minimum submission review status: Collection method:
Minimum conflict level:
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
18 9 494 321 35 3 814

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U 0 0 404 265 29 0 698
not specified 4 0 120 64 7 0 187
not provided 0 4 77 38 16 0 131
Charcot-Marie-Tooth disease 0 0 31 25 8 0 64
MARS1-related disorder 0 0 9 10 4 0 23
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 5 4 11 0 0 0 20
Charcot-Marie-Tooth disease axonal type 2U 4 1 8 0 0 1 14
Trichothiodystrophy 9, nonphotosensitive 1 0 4 0 0 0 5
Pulmonary alveolar proteinosis 3 0 0 0 0 0 3
Spastic paraplegia 70, autosomal recessive 3 0 0 0 0 0 3
MARS-related disorder 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 2
Distal spinal muscular atrophy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 404 271 29 0 704
Ambry Genetics 4 0 103 48 0 0 155
GeneDx 0 2 33 33 10 0 78
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 28 25 8 0 61
CeGaT Center for Human Genetics Tuebingen 0 2 15 16 1 0 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 6 8 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 19 4 1 0 24
Breakthrough Genomics, Breakthrough Genomics 0 0 7 6 11 0 24
PreventionGenetics, part of Exact Sciences 0 0 9 10 4 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 0 15 0 0 0 15
OMIM 11 0 0 0 0 0 11
Baylor Genetics 0 0 6 0 0 0 6
Clinical Genetics, Academic Medical Center 0 0 0 1 3 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Mendelics 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 2 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1

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