Variants studied for Cutis laxa with osteodystrophy

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
9	2	99	9	45	9	169

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ATP6V0A2	9	0	91	8	42	8	155
ATP6V0A2, LOC130009117	0	1	5	1	1	0	8
ATP6V0A2, LOC126861666	0	1	3	0	1	1	5
ATP6V0A2, LOC130009117, TCTN2	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	93	9	41	0	143
GeneReviews	1	0	0	0	1	9	11
Genome-Nilou Lab	0	0	0	0	7	0	7
OMIM	4	0	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	0	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	1	0	0	0	2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	1	0	0	0	0	2
Division of Biology and Genetics, University of Brescia	2	0	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research	1	0	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1

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