ClinVar Miner

Variants in gene POC1A

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
17 15 78 94 18 201

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 4 42 84 18 152
Inborn genetic diseases 0 0 35 4 0 39
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 9 10 12 1 0 30
not specified 0 0 4 5 0 8
POC1A-related disorder 0 1 0 5 0 6
POC1A-related syndrome 2 0 0 0 0 2
Ateleiotic dwarfism 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 1
See cases 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
Labcorp Genetics (formerly Invitae), Labcorp 7 3 39 82 11 142
Ambry Genetics 0 0 35 4 0 39
GeneDx 2 1 4 0 10 17
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 10 12
Fulgent Genetics, Fulgent Genetics 1 5 1 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 2 4 0 6
PreventionGenetics, part of Exact Sciences 0 1 0 5 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 2 3 0 0 6
Baylor Genetics 0 0 5 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 2 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 4 0 4
OMIM 2 0 0 0 0 2
Blueprint Genetics 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 0 0 0 0 2
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 2 0 0 0 0 2
Revvity Omics, Revvity 1 0 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
Pars Genome Lab 1 0 0 0 0 1
3billion 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Laboratorio de Genomica, Unidad de Medicina Traslacional, Hospital de Ninos Ricardo Gutierrez 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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