Variants studied for Schwartz-Jampel 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
2	7	335	44	115	499

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	total
HSPG2	2	7	285	37	100	427
HSPG2, LDLRAD2	0	0	36	7	13	56
HSPG2, LOC126805655	0	0	14	0	2	16

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	321	43	100	464
Genome-Nilou Lab	0	0	0	0	46	46
Baylor Genetics	0	1	4	0	0	5
Mendelics	1	1	0	2	1	5
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	5	0	0	5
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	1	0	0	2
Genomic Medicine Lab, University of California San Francisco	0	0	2	0	0	2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	2	0	0	0	2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	0	0	1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	1	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	1
Neurology Laboratory, National Cheng Kung University Hospital	0	1	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	1	0	0	0	1

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