Variants studied for woolly hair-skin fragility syndrome

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
5	8	321	66	37	429

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
DSP	3	8	321	66	37	427
TUFT1	2	0	0	0	0	2

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	3	6	199	27	5	240
Illumina Laboratory Services, Illumina	0	0	129	39	28	196
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	10	0	0	10
Genome-Nilou Lab	0	0	0	0	8	8
OMIM	2	0	0	0	0	2
Baylor Genetics	0	1	1	0	0	2
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	0	1
3billion	0	0	1	0	0	1

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