Variants studied for osteoglophonic dwarfism

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
4	8	118	37	49	1	215

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
FGFR1	4	8	83	35	33	1	162
FGFR1, LOC102723716	0	0	30	2	14	0	46
FGFR1, LOC130000233	0	0	3	0	1	0	4
FGFR1, LOC130000232	0	0	2	0	1	0	3

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	78	11	49	0	138
Fulgent Genetics, Fulgent Genetics	1	5	39	26	2	0	73
OMIM	3	0	0	0	0	0	3
Baylor Genetics	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Mendelics	0	1	0	0	0	0	1
Cormier-Daire Lab, IMAGINE	0	1	0	0	0	0	1
3billion	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	0	1	0	0	0	0	1

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