Variants studied for Arginine:glycine amidinotransferase 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
21	16	264	247	29	2	553

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GATM	19	15	240	220	26	2	498
GATM, LOC130056991	2	1	20	27	3	0	51
AFG2B, B2M, BLOC1S6, C15orf48, DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, PATL2, SHF, SLC28A2, SLC30A4, SORD, SPG11, TERB2, TRIM69	0	0	1	0	0	0	1
AFG2B, BLOC1S6, C15orf48, GATM, SLC30A4	0	0	1	0	0	0	1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, LOC121847946, LOC129390694, LOC130056979, LOC130056980, LOC130056981, LOC130056982, LOC130056983, LOC130056984, LOC130056985, LOC130056986, LOC130056987, LOC130056988, LOC130056989, LOC130056990, LOC130056991, SHF, SLC28A2, SORD, TERB2, TRH-GTG1-7, TRH-GTG1-8, TRH-GTG1-9	0	0	1	0	0	0	1
DUOX1, DUOX2, DUOXA1, DUOXA2, GATM, SHF, SLC28A2, SORD, TERB2	0	0	1	0	0	0	1

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	16	8	235	241	11	0	511
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen	5	7	19	9	15	0	55
Illumina Laboratory Services, Illumina	0	0	24	1	12	0	37
OMIM	5	0	0	0	0	0	5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	2	0	3
GeneReviews	0	0	0	0	0	2	2
Genome-Nilou Lab	0	0	0	0	2	0	2
Baylor Genetics	0	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
Solve-RD Consortium	0	1	0	0	0	0	1

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