Variants studied for Muscle AMP 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	not provided	total
4	5	265	137	25	2	413

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	4	5	265	137	25	2	413

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	1	0	236	137	24	0	398
Revvity Omics, Revvity	0	2	54	0	0	0	56
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	2	0	0	0	4
Clinical Genomics Laboratory, 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
Fulgent Genetics, Fulgent Genetics	0	2	1	0	0	0	3
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	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
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	0	0	1

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