Variants studied for Desbuquois dysplasia 1

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
29	5	275	195	56	557

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
XYLT1	7	0	148	144	30	329
CANT1	17	5	74	12	15	120
LOC102723692, XYLT1	0	0	33	31	9	73
LOC130058566, XYLT1	1	0	14	8	0	23
CANT1, LOC130061867	2	0	3	0	2	7
ABCC1, ABCC6, CEP20, MYH11, NDE1, NOMO3, XYLT1	1	0	1	0	0	2
LOC130058565, XYLT1	0	0	2	0	0	2
LOC102723692, LOC126862302, LOC129390772, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, XYLT1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	10	0	198	183	39	430
Illumina Laboratory Services, Illumina	0	1	70	12	17	100
OMIM	16	0	0	0	0	16
3billion	2	1	0	0	0	3
Baylor Genetics	0	0	2	0	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	2	0	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	1	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	2
Lifecell International Pvt. Ltd	0	1	1	0	0	2
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Mendelics	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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