Variants studied for Pituitary hormone deficiency, combined, 1

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
27	8	22	2	5	1	60

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
POU1F1	24	8	16	0	0	1	45
HESX1	3	0	3	0	0	0	6
CHMP2B, POU1F1	0	0	0	1	5	0	5
LHX3	0	0	1	1	0	0	2
ACBD6, LHX4	0	0	1	0	0	0	1
LHX4	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	21	0	0	0	0	0	21
Illumina Laboratory Services, Illumina	0	0	15	0	5	0	20
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	3	0	5	1	0	0	9
Endocrinology Clinic, Seth G.S. Medical College	2	2	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	0	2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	2	0	0	0	0	2
3billion	0	2	0	0	0	0	2
Department of Pediatrics, Taipei Veterans General Hospital	1	1	0	0	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	1	0	0	0	0	0	1

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