ClinVar Miner

Variants in gene AP5Z1

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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
17 10 340 153 62 519

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 48, autosomal recessive 17 6 318 105 52 459
not provided 0 4 23 58 9 92
not specified 0 0 7 9 18 29
Hereditary spastic paraplegia 0 0 5 0 0 5
Spastic Paraplegia, Recessive 0 0 3 1 0 4
Severe Myopia 0 0 1 0 0 1
Spastic paraplegia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 216 47 21 284
Invitae 6 4 118 95 40 263
Athena Diagnostics Inc 0 2 20 9 23 54
Baylor Genetics 1 1 9 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 2 0 10
Genetic Services Laboratory, University of Chicago 0 0 1 8 0 9
OMIM 6 0 0 0 0 6
GeneDx 0 2 4 0 0 6
Paris Brain Institute,Inserm - ICM 6 0 0 0 0 6
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 5 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 1
CMT Laboratory,Bogazici University 0 0 1 0 0 1

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