Variants studied for Skeletal dysplasia

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
6	4	94	31	20	28	180

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CHST3	0	0	92	31	20	0	143
TRPV4	0	1	0	0	0	28	28
ALPL	2	0	0	0	0	0	2
GALNS	1	1	0	0	0	0	2
COL1A2	0	1	0	0	0	0	1
COL2A1	1	0	0	0	0	0	1
COPS7B, DIS3L2, NPPC	0	0	1	0	0	0	1
DIPK2B, DUSP21, FUNDC1, KDM6A	1	0	0	0	0	0	1
DYNC2H1	0	1	0	0	0	0	1
RAB33B	1	0	0	0	0	0	1
TP63	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	92	31	20	0	143
GeneReviews	0	0	0	0	0	28	28
Center for Personalized Medicine, Children's Hospital Los Angeles	3	0	0	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	1	1	0	0	0	0	2
Institute of Human Genetics, University Hospital Muenster	1	1	0	0	0	0	2
Rare Disease Group, Clinical Genetics, Karolinska Institutet	1	1	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	0	1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	0	1	0	0	0	0	1

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