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
10	1	140	21	75	2	245

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	6	1	96	18	59	2	179
DMP1	4	0	44	3	16	0	66

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Clinical Services Laboratory,Illumina	0	0	140	21	73	0	234
OMIM	8	0	0	0	0	0	8
Institute of Human Genetics, Klinikum rechts der Isar	6	0	0	0	0	0	6
Mayo Clinic Laboratories, Mayo Clinic	1	1	0	0	0	0	2
UniProtKB/Swiss-Prot	0	0	0	0	0	2	2
Centre for Mendelian Genomics,University Medical Centre Ljubljana	0	0	0	0	2	0	2
Mendelics	0	0	0	0	1	0	1
Fulgent Genetics,Fulgent Genetics	0	0	1	0	0	0	1

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