Variants in gene combination IRF2BPL, LOC107984638

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
8	8	32	16	5	67

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	4	3	19	11	4	41
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	4	4	7	1	1	17
IRF2BPL-related disorder	0	0	0	6	1	7
Inborn genetic diseases	0	0	5	1	0	6
Neurodevelopmental disorder	0	1	0	0	0	1
See cases	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GeneDx	2	2	16	0	2	22
CeGaT Center for Human Genetics Tuebingen	1	1	2	11	2	17
PreventionGenetics, part of Exact Sciences	0	0	0	6	1	7
Ambry Genetics	0	0	5	1	0	6
New York Genome Center	0	0	3	0	0	3
Revvity Omics, Revvity	0	0	2	0	0	2
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	2	2
Baylor Genetics	0	0	1	0	0	1
Labcorp Genetics (formerly Invitae), Labcorp	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	1	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
Wang lab, Dept of pediatrics, Fujian Medical University Union Hospital	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	1

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