ClinVar Miner

Variants studied for adenosine monophosphate deaminase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 6 353 145 39 1 2 524

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 1 89 8 14 1 0 112
APOB 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1

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