ClinVar Miner

Variants in gene ASAH1

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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
66 63 335 338 121 5 868

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 37 34 281 333 107 0 776
Farber lipogranulomatosis 20 25 64 5 42 3 156
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 9 4 5 0 21 1 35
not specified 0 0 5 1 14 0 20
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Farber lipogranulomatosis 2 2 9 2 1 1 17
Inborn genetic diseases 1 0 13 1 0 0 15
ASAH1-related condition 1 2 0 0 0 0 3
Childhood epilepsy with centrotemporal spikes 3 0 0 0 0 0 3
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 2 0 0 0 0 2
ASAH1-related disorders 1 0 0 0 0 0 1
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Keloid formation 1 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Variant of unknown significance 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 26 263 288 15 0 628
GeneDx 2 5 10 41 101 0 159
Illumina Laboratory Services, Illumina 1 0 55 5 25 0 86
Medical Affairs, Dicerna Pharmaceuticals 19 21 5 0 0 0 45
Mayo Clinic Laboratories, Mayo Clinic 0 0 8 1 12 0 21
Genome-Nilou Lab 0 0 0 0 21 0 21
CeGaT Center for Human Genetics Tuebingen 0 0 9 10 1 0 20
Revvity Omics, Revvity Omics 2 4 12 0 0 0 18
Ambry Genetics 1 0 13 1 0 0 15
OMIM 13 0 1 0 0 0 14
Athena Diagnostics Inc 0 0 7 3 4 0 14
Preventiongenetics, part of Exact Sciences 1 2 0 1 10 0 14
Fulgent Genetics, Fulgent Genetics 0 2 9 2 1 0 14
Clinical Genetics, Academic Medical Center 0 0 3 0 7 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 3 0 5 0 8
Baylor Genetics 0 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 5 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 0 0 0 5
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 3 0 2 0 0 0 5
Eurofins Ntd Llc (ga) 1 0 1 0 2 0 4
GeneReviews 0 0 0 0 0 4 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 4 0 0 0 4
Mendelics 0 0 0 0 3 0 3
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 3 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 0 2
Cirak Lab, University Hospital Cologne 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Reichenberger Lab, Center for Regenerative Medicine and Skeletal Development, UConn Health Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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