ClinVar Miner

Variants in gene MFSD8

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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 total
48 35 207 116 27 397

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 7 43 18 170 74 20 314
not provided 10 9 46 23 6 93
not specified 0 0 1 32 14 45
Late-infantile neuronal ceroid lipofuscinosis 4 0 19 1 7 31
Seizures 0 3 12 7 5 27
Macular dystrophy with central cone involvement 3 3 0 0 0 5
Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 0 1 4 0 0 5
Neuronal Ceroid-Lipofuscinosis, Recessive 0 0 3 0 0 3
Retinal dystrophy 0 2 1 0 0 3
Inborn genetic diseases 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 1
Retinitis pigmentosa 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 1
Stargardt disease 1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 34 8 118 75 12 247
GeneDx 7 6 33 36 17 99
Illumina Clinical Services Laboratory,Illumina 1 0 56 8 13 78
Natera, Inc. 4 0 19 1 7 31
Ambry Genetics 0 4 12 7 5 28
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 15 1 3 21
OMIM 12 0 0 0 0 12
Genetic Services Laboratory, University of Chicago 0 0 1 2 2 5
Mendelics 2 3 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 2 3 5
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 1 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 1 0 0 4
Athena Diagnostics Inc 0 0 1 0 2 3
Institute of Medical Molecular Genetics, University of Zurich 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 2 0 0 3
Blueprint Genetics 1 1 1 0 0 3
Baylor Genetics 1 1 0 0 0 2
PreventionGenetics, PreventionGenetics 0 0 0 0 2 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 0 0 0 0 2
GeneReviews 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Tim Yu lab,Boston Children's Hospital 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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