ClinVar Miner

Variants in gene SFTPB

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 total
13 11 103 76 48 220

Condition and significance breakdown #

Total conditions: 5
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 5 5 24 39 45 109
Hereditary pulmonary alveolar proteinosis 4 3 51 32 15 105
Surfactant metabolism dysfunction, pulmonary, 1 8 3 48 15 14 86
not specified 0 0 1 5 9 15
SFTPB-related disorder 1 2 2 3 3 11

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 4 3 51 32 15 105
Labcorp Genetics (formerly Invitae), Labcorp 2 4 15 21 25 67
Illumina Laboratory Services, Illumina 1 0 40 13 12 66
GeneDx 1 1 3 10 25 40
Breakthrough Genomics, Breakthrough Genomics 0 0 4 9 17 30
PreventionGenetics, part of Exact Sciences 1 2 2 3 7 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 3 8 12
Johns Hopkins Genomics, Johns Hopkins University 2 0 2 3 1 8
Eurofins Ntd Llc (ga) 0 0 3 1 2 6
CeGaT Center for Human Genetics Tuebingen 0 0 1 5 0 6
OMIM 5 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Revvity Omics, Revvity 1 1 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.