ClinVar Miner

Variants in gene ABCA3

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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 not provided total
15 14 202 54 42 5 293

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Surfactant metabolism dysfunction, pulmonary, 3 13 8 185 28 27 0 248
not provided 2 1 9 22 20 5 56
not specified 0 0 8 12 13 0 30
Pulmonary Surfactant Metabolism Dysfunction, Recessive 0 0 4 0 0 0 4
Idiopathic Pulmonary Fibrosis 0 2 0 0 0 0 2
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 1 1 0 0 0 0 2
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies; Diffuse interstitial pulmonary fibrosis 0 2 0 0 0 0 2
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 1 1 0 0 0 2
Malignant tumor of prostate 0 0 1 0 0 0 1
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary insufficiency 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: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 164 15 24 0 204
Johns Hopkins Genomics, Johns Hopkins University 3 5 22 15 3 0 48
Invitae 1 0 1 21 16 0 39
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 3 8 8 13 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 8 3 0 0 12
OMIM 7 0 0 0 0 0 7
GeneDx 0 1 1 1 4 0 7
Baylor Genetics 3 0 3 0 0 0 6
Cole and Hamvas Lab, Washington University - St. Louis 0 0 0 0 0 5 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 2 1 0 0 0 3
Mendelics 0 0 1 0 1 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 0 1 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Genoks Genetic Disorders Diagnostic Laboratory 0 1 0 0 0 0 1

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