Variants studied for Steel syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
12	23	16	4	43	98

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
COL27A1	11	21	15	4	37	88
COL27A1, LOC126860736	1	2	1	0	6	10

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	1	2	41	44
Fulgent Genetics, Fulgent Genetics	1	13	2	2	2	20
Revvity Omics, Revvity	2	3	2	0	0	7
OMIM	4	0	0	0	0	4
Baylor Genetics	0	1	3	0	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	0	2	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	1	0	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	1	0	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Institute of Medical Genetics, Medical University of Vienna	1	0	0	0	0	1
Suma Genomics	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1
First Genomix Gene Laboratory, Genetic Diagnostics Department	0	1	0	0	0	1

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