Variants studied for Rhizomelic chondrodysplasia punctata type 1

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
18	51	51	6	8	9	129

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	not provided	total
PEX7	18	51	51	6	8	9	129

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Counsyl	0	27	14	1	0	0	42
Illumina Laboratory Services, Illumina	0	0	31	4	3	0	38
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	13	5	0	0	0	0	18
Baylor Genetics	10	6	0	0	0	0	16
Natera, Inc.	3	1	10	2	0	0	16
Myriad Genetics, Inc.	2	13	0	0	0	0	15
GeneReviews	0	0	0	0	0	8	8
OMIM	6	0	0	0	0	0	6
Genetic Services Laboratory, University of Chicago	5	1	0	0	0	0	6
Genome-Nilou Lab	0	0	1	0	5	0	6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	1	0	0	0	0	0	1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences	1	0	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	0	1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies	0	0	0	0	0	1	1

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