Variants studied for spondyloepimetaphyseal dysplasia, PAPSS2 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
24	6	104	85	21	238

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	total
PAPSS2	24	6	104	85	21	238

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	12	3	101	84	21	221
OMIM	8	0	0	0	0	8
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	2	1	1	0	0	4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	1	0	0	3
Baylor Genetics	1	0	1	0	0	2
Mendelics	2	0	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	2	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Palindrome, Gene Kavoshgaran Aria	1	0	0	0	0	1

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