ClinVar Miner

Variants in gene OBSL1

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
18 9 238 82 68 375

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Three M syndrome 2 14 2 142 20 45 223
not provided 5 3 108 66 40 211
not specified 0 0 1 1 19 21
3-M syndrome 0 0 3 1 1 5
Three M syndrome 1 0 3 0 0 0 3
Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect 0 0 2 0 0 2
Short stature 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 142 21 46 209
Invitae 1 1 64 63 40 169
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 35 1 19 57
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 9 1 0 11
Baylor Genetics 5 0 2 0 0 7
OMIM 6 0 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 2 5
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 4 0 0 5
GeneDx 2 0 1 0 0 3
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 3 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 0 1 0 0 2
Mendelics 0 1 0 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Department of Molecular Biology and Genetics,Istanbul Technical University 1 0 0 0 0 1

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