Variants studied for Hennekam 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	not provided	total
16	1	208	29	72	7	325

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
CCBE1	7	1	160	22	52	5	239
FAT4	6	0	46	6	17	2	77
ADAMTS3	3	0	2	1	3	0	9

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	151	19	46	0	216
Genome-Nilou Lab	0	0	0	0	25	0	25
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	18	0	0	0	18
Baylor Genetics	0	0	16	0	0	0	16
Fulgent Genetics, Fulgent Genetics	0	0	7	6	2	0	15
OMIM	14	0	0	0	0	0	14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	7	0	0	0	7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	3	3	0	6
UniProtKB/Swiss-Prot	0	0	0	0	0	5	5
Revvity Omics, Revvity	0	0	2	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	0	2
Molecular Genetics Lab, CHRU Brest	0	0	2	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Institute of Human Genetics, University of Goettingen	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	1

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