Variants studied for Neonatal severe primary hyperparathyroidism

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
13	5	42	8	19	86

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
CASR	13	5	42	8	19	86

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	39	8	15	62
OMIM	10	0	0	0	0	10
Genome-Nilou Lab	0	0	0	0	5	5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	1	0	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1

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