Variants studied for Spondylometaphyseal dysplasia, Kozlowski type

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
6	1	35	11	59	112

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
TRPV4	6	1	32	11	59	109
MIR4497, TRPV4	0	0	3	0	0	3

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	34	11	59	104
OMIM	5	0	0	0	0	5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	0	0	0	0	2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1

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