Variants studied for adenosine monophosphate deaminase deficiency

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	affects	not provided	total
4	5	353	145	39	1	2	523

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	not provided	total
AMPD1	3	5	263	137	25	0	2	411
AMPD3	1	0	89	8	14	1	0	111
APOB	0	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	affects	not provided	total
Invitae	0	0	235	137	24	0	0	396
Illumina Laboratory Services, Illumina	1	0	91	7	14	0	0	113
Revvity Omics, Revvity	0	2	54	0	0	0	0	56
Fulgent Genetics, Fulgent Genetics	0	2	1	3	0	0	0	6
OMIM	3	0	0	0	0	1	0	4
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	2	0	0	0	0	4
Clinical Genomics Program, Stanford Medicine	0	0	4	0	0	0	0	4
Baylor Genetics	0	1	2	0	0	0	0	3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	3	0	0	0	0	3
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	0	2	2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	0	0	2	0	0	2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	0	0	1

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