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
26	4	272	195	56	551

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	6	0	148	144	30	328
CANT1	15	4	71	12	15	115
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: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	9	0	198	183	39	429
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	2
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Mendelics	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1

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