ClinVar Miner

Variants in gene CACNA1F

Minimum submission review status: Collection method:
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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 not provided total
49 40 228 74 24 2 393

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 24 11 212 64 20 2 327
Congenital stationary night blindness 12 11 0 0 0 0 23
Congenital stationary night blindness, type 2A 11 5 5 2 0 0 23
Retinal dystrophy 4 9 9 0 0 0 22
not specified 0 0 0 11 8 0 17
Ocular albinism, type II 4 1 2 0 0 0 7
X-linked cone-rod dystrophy 3 3 1 1 0 0 0 5
Cone-rod degeneration 3 0 0 0 0 0 3
Retinitis pigmentosa 0 1 1 1 0 0 3
Abnormality of the eye 0 1 1 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 1
Cone-rod dystrophy 0 0 1 0 0 0 1
Congenital stationary night blindness, type 2A, severe 1 0 0 0 0 0 1
Inborn genetic diseases 0 1 0 0 0 0 1
Macular dystrophy 0 0 1 0 0 0 1
Myopia (disease); Amblyopia 0 1 0 0 0 0 1
Progressive cone dystrophy (without rod involvement) 1 0 0 0 0 0 1
X-linked cone-rod dystrophy 3; Congenital stationary night blindness, type 2A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 4 187 61 18 0 283
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 13 6 7 0 30
Blueprint Genetics 4 8 9 0 0 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 6 2 8 2 0 0 18
GeneDx 4 5 6 0 2 0 17
NIHR Bioresource Rare Diseases, University of Cambridge 2 11 0 0 0 0 13
Sharon lab,Hadassah-Hebrew University Medical Center 10 2 0 0 0 0 12
OMIM 10 0 0 0 0 0 10
Laboratory of Genetics in Ophthalmology,Institut Imagine 4 4 0 0 0 0 8
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 2 2 3 0 0 0 7
Molecular Genetics Laboratory,Institute for Ophthalmic Research 4 0 0 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 2 0 0 0 4
Mendelics 0 0 1 2 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 2 0 0 2
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 2 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Rui Chen Lab,Baylor College of Medicine 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1

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