Variants studied for Luscan-Lumish 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
20	4	340	280	114	4	736

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SETD2	20	4	332	274	114	4	723
LOC129936665, SETD2	0	0	6	6	0	0	11
KIF9, KLHL18, PTPN23, SETD2	0	0	1	0	0	0	1
KIF9, LOC129936664, LOC129936665, LOC129936666, SETD2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 32

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	8	0	284	278	103	0	673
Genome-Nilou Lab	0	0	24	4	30	0	58
New York Genome Center	0	0	25	0	0	0	25
Baylor Genetics	2	0	13	0	0	0	15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	5	1	0	0	8
Fulgent Genetics, Fulgent Genetics	0	0	5	2	0	0	7
OMIM	4	0	0	0	0	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	3	0	1	0	4
MGZ Medical Genetics Center	0	0	3	0	0	0	3
GeneReviews	0	0	0	0	0	2	2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	0	1	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	1	1	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	0	2
3billion	1	1	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	1	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	1	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	2	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	0	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	1	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	1	0	0	0	0	0	1
Clinical Genetics, Synlab MVZ Humangenetik Freiburg	0	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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