Variants studied for Autosomal dominant osteopetrosis 2

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
10	3	2	0	11	2	26

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
CLCN7	10	3	2	10	2	25
CLCN7, LOC130058166	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Genome-Nilou Lab	0	0	0	11	0	11
OMIM	2	0	0	0	0	2
Mendelics	2	0	0	0	0	2
GeneReviews	0	0	0	0	2	2
Molecular Lab, Department of Haematology, Christian Medical College	2	0	0	0	0	2
Baylor Genetics	1	0	0	0	0	1
Guangxi Key laboratory of Metabolic Diseases Research; Guilin 181st Hospital	0	1	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare	1	0	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	1
Bioinformatics Research Center, Pavlov First St. Petersburg State Medical University	0	1	0	0	0	1
DASA	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1

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