ClinVar Miner

Variants in gene FLVCR1

Minimum submission review status: Collection method:
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Gene type:
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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
16 21 176 39 49 283

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Posterior column ataxia-retinitis pigmentosa syndrome 5 4 96 8 48 159
not provided 10 14 83 29 5 133
Retinal dystrophy 1 1 7 0 0 9
not specified 0 0 6 2 2 9
Inborn genetic diseases 2 0 1 0 0 3
Retinitis pigmentosa 2 0 0 0 0 2
Jeune thoracic dystrophy 0 1 0 0 0 1
Retinitis pigmentosa; Hereditary sensory and autonomic neuropathy 0 1 0 0 0 1
Short Rib Polydactyly Syndrome 0 1 0 0 0 1
Stargardt disease 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 93 8 45 146
Invitae 6 3 63 28 2 102
Athena Diagnostics Inc 0 2 25 3 6 36
GeneDx 2 4 5 0 0 11
Blueprint Genetics 1 1 7 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 3 0 0 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 6 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 3 0 0 0 5
OMIM 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 4
Ambry Genetics 2 0 1 0 0 3
Mendelics 1 1 0 0 1 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 1 3
Baylor Genetics 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 2 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Heon Lab,The Hospital for Sick Children 0 1 0 0 0 1

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