Variants studied for autosomal recessive hypophosphatemic rickets

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
22	23	279	35	76	2	430

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	not provided	total
ENPP1	18	19	184	28	60	2	309
DMP1	4	4	95	7	16	0	121

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	138	21	73	0	232
Fulgent Genetics, Fulgent Genetics	5	18	158	14	2	0	197
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	7	1	1	0	11
OMIM	8	0	0	0	0	0	8
Genomenon, Inc, Genomenon, Inc	8	0	0	0	0	0	8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	6	0	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	5	0	5
Revvity Omics, Revvity	0	1	1	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	1	1	0	0	0	0	2
UniProtKB/Swiss-Prot	0	0	0	0	0	2	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	0	2	0	2
3billion	1	0	0	1	0	0	2
Mendelics	0	0	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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