Variants studied for Schimke immuno-osseous dysplasia

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	not provided	total
109	36	302	603	36	1	1028

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SMARCAL1	109	35	297	602	35	1	1020
LOC112806077, SMARCAL1	0	0	5	1	1	0	7
LOC112806077, LOC129935569, MARCHF4, SMARCAL1	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 28

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	99	22	243	591	26	0	981
Natera, Inc.	8	1	66	26	17	0	118
Fulgent Genetics, Fulgent Genetics	8	6	54	28	1	0	97
Illumina Laboratory Services, Illumina	1	0	38	7	12	0	58
Genome-Nilou Lab	0	0	0	1	10	0	11
OMIM	8	0	0	0	0	0	8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	2	5	0	8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	3	2	1	0	0	0	6
Revvity Omics, Revvity	0	4	1	0	0	0	5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	5	0	0	0	5
Centre for Mendelian Genomics, University Medical Centre Ljubljana	3	0	0	0	0	0	3
Baylor Genetics	0	0	2	0	0	0	2
Institute of Human Genetics, Cologne University	0	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	1	0	0	0	2
Molecular Biology Laboratory, Fundació Puigvert	1	1	0	0	0	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute	1	0	0	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	1	0	0	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	1	0	0	0	0	0	1
Human Genetics Section, Sidra Medicine	0	1	0	0	0	0	1
Istanbul Faculty of Medicine, Istanbul University	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University	1	0	0	0	0	0	1

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