Variants studied for X-linked chondrodysplasia punctata

Minimum submission review status:		Collection method:
Minimum conflict level:
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
23	5	3	1	2	33

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
ARSE	11	2	3	1	2	18
NSDHL	12	3	0	0	0	15

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	14	0	0	0	0	14
GeneReviews	11	0	0	0	0	11
Genetic Services Laboratory, University of Chicago	4	4	1	0	0	9
Invitae	0	0	1	0	2	3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	0	0	1	0	0	1
Genomic Research Center,Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	0	0	0	1	0	1

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