Variants studied for autosomal recessive Kenny-Caffey syndrome

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
2	3	5	0	0	1	9

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	not provided	total
TBCE	2	3	4	1	8
B3GALNT2, TBCE	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	3	0	3
MGZ Medical Genetics Center	0	0	2	0	2
OMIM	1	0	0	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	1
Department of Developmental Neurology, Medical University of Gdańsk	0	0	0	1	1

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