ClinVar Miner

Variants in gene CFAP53

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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
5 8 80 38 14 136

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Heterotaxy, visceral, 6, autosomal 4 4 30 22 14 72
Inborn genetic diseases 0 0 60 3 0 63
not provided 1 0 3 12 10 26
not specified 0 0 0 4 10 13
CFAP53-related disorder 0 1 0 2 1 4
Dextrocardia 0 2 0 0 0 2
Heterotaxy 1 1 0 0 0 2
Hypoplastic left heart syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 1 26 25 14 67
Ambry Genetics 0 0 60 3 0 63
PreventionGenetics, part of Exact Sciences 0 1 0 6 10 17
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 10 12
CeGaT Center for Human Genetics Tuebingen 0 0 0 7 1 8
GeneDx 0 0 2 1 2 5
OMIM 3 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 3
Department of Medical Biology, Academic Medical Center 0 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 0 1 0 0 1

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