Variants studied for lethal osteosclerotic bone dysplasia

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
15	2	12	7	13	48

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FAM20C	15	2	12	7	13	48

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	14	0	0	0	0	14
Genome-Nilou Lab	0	0	0	0	11	11
Fulgent Genetics, Fulgent Genetics	0	0	3	6	1	10
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	4	0	0	4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	3	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	1	0	0	2
3billion	0	0	1	1	0	2
Revvity Omics, Revvity	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Mendelics	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	1	0	1

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