Variants studied for Hutchinson-Gilford 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
7	9	35	11	12	18	85

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
LMNA	7	7	32	10	10	17	76
ERCC4	0	2	2	0	0	0	4
LMNA, LOC126805877	0	0	1	0	2	1	4
LMNA, LOC129931597	0	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	30	11	11	0	52
GeneReviews	0	0	0	0	0	18	18
Mendelics	1	3	0	0	1	0	5
OMIM	4	0	0	0	0	0	4
University of Washington Center for Mendelian Genomics, University of Washington	0	2	2	0	0	0	4
Genetic Services Laboratory, University of Chicago	2	0	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Suma Genomics	0	1	0	0	0	0	1
DASA	0	1	0	0	0	0	1

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