ClinVar Miner

Variants in gene SFTPC

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 likely risk allele total
16 18 86 38 35 5 163

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
not provided 4 5 44 15 24 0 84
Surfactant metabolism dysfunction, pulmonary, 2 10 6 19 11 18 0 58
Hereditary pulmonary alveolar proteinosis 4 5 24 17 3 0 53
Interstitial lung disease 2 0 1 8 12 13 0 33
SFTPC-related disorder 1 1 6 3 2 0 13
not specified 0 0 2 5 2 0 9
Pulmonary Surfactant Metabolism Dysfunction, Dominant 0 0 1 4 0 0 5
Pulmonary fibrosis 0 0 0 0 0 5 5
Interstitial lung disease 2; Surfactant metabolism dysfunction, pulmonary, 2 0 1 0 1 0 0 2
Inborn genetic diseases 0 1 0 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 1 0 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 likely risk allele total
Labcorp Genetics (formerly Invitae), Labcorp 4 3 31 7 11 0 56
Ambry Genetics 4 6 24 17 3 0 54
GeneDx 1 1 14 5 13 0 34
Illumina Laboratory Services, Illumina 0 0 7 12 14 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 1 6 10 0 17
PreventionGenetics, part of Exact Sciences 1 1 6 3 2 0 13
Johns Hopkins Genomics, Johns Hopkins University 1 1 6 3 1 0 12
OMIM 8 0 0 0 0 0 8
Mendelics 0 1 3 0 2 0 6
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center 0 0 0 0 0 5 5
Revvity Omics, Revvity 1 0 2 1 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 0 0 3 1 0 4
Eurofins Ntd Llc (ga) 1 0 1 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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