ClinVar Miner

Variants studied for Muscle AMP deaminase deficiency

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
3 5 262 137 25 2 410

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 not provided total
AMPD1 3 5 262 137 25 2 410

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 235 137 24 0 396
Revvity Omics, Revvity Omics 0 2 54 0 0 0 56
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 2 0 0 0 4
Clinical Genomics Program, Stanford Medicine 0 0 4 0 0 0 4
OMIM 3 0 0 0 0 0 3
Baylor Genetics 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 2 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1

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