Variants from ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

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)

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	total
85	78	108	43	34	348

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SLC6A8	45	37	60	20	9	171
GAMT	25	28	25	12	9	99
GATM	5	7	20	8	14	54
GAMT, LOC130062945	10	6	3	3	1	23
GATM, LOC130056991	0	0	0	0	1	1

Condition and significance breakdown #

Total conditions: 3

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Creatine transporter deficiency	45	37	60	20	9	171
Deficiency of guanidinoacetate methyltransferase	35	34	28	15	10	122
Arginine:glycine amidinotransferase deficiency	5	7	20	8	15	55

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