Variants studied for hypopigmentation, organomegaly, and delayed myelination and development

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
1	1	8	1	11	22

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CLCN7	1	1	8	0	10	20
CLCN7, LOC130058166	0	0	0	1	1	2

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	0	0	11	11
Fulgent Genetics, Fulgent Genetics	0	0	3	1	0	4
New York Genome Center	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Wangler Lab, Baylor College of Medicine	0	0	1	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1

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