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
10	12	10	4	43	79

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	9	11	10	4	37	71
COL27A1, LOC126860736	1	1	0	0	6	8

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	1	2	41	44
Revvity Omics, Revvity	2	3	2	0	0	7
Fulgent Genetics, Fulgent Genetics	1	2	0	2	2	7
OMIM	4	0	0	0	0	4
Baylor Genetics	0	1	3	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
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
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
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics	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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1
Molecular Diagnostics, First Genomix Laboratory	0	1	0	0	0	1

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