Variants studied for Cerebral creatine deficiency syndrome

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	total
75	23	195	240	8	529

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
GAMT	51	18	143	188	5	395
GAMT, LOC130062945	22	5	51	52	1	129
GAMT, NDUFS7	1	0	0	0	2	3
ABCA7, ARHGAP45, ARID3A, ATP5F1D, AZU1, CBARP, CFD, CIRBP, CNN2, EFNA2, ELANE, FAM174C, FGF22, FSTL3, GAMT, GPX4, GRIN3B, HCN2, KISS1R, MED16, MIDN, MISP, NDUFS7, PALM, PLPPR3, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, PWWP3A, R3HDM4, RNF126, SBNO2, STK11, TMEM259, WDR18	0	0	1	0	0	1
ADAMTSL5, APC2, ATP5F1D, C19orf25, CBARP, CIRBP, DAZAP1, EFNA2, FAM174C, GAMT, MBD3, MEX3D, MIDN, NDUFS7, PCSK4, PLK5, PWWP3A, REEP6, RPS15, STK11, TCF3, UQCR11	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	73	17	189	240	8	527
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	11	7	10	0	0	28
DASA	1	0	0	0	0	1

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