Variants studied for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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
39	6	638	446	23	1	1148

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	not provided	total
ADAR	34	6	591	399	18	1	1046
ADAR, LOC126805874	4	0	38	37	4	0	81
ADAR, LOC129931512	0	0	8	10	1	0	19
ADAR, AQP10, ATP8B2, C1orf43, CFAP141, CHRNB2, CREB3L4, CRTC2, DENND4B, GATAD2B, HAX1, IL6R, JTB, NUP210L, RAB13, RPS27, SHE, SLC39A1, TDRD10, TPM3, UBAP2L, UBE2Q1	0	0	1	0	0	0	1
ADAR, CHRNB2, IL6R, SHE, TDRD10, UBE2Q1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	39	4	637	445	23	0	1148
Fulgent Genetics, Fulgent Genetics	1	0	6	4	1	0	12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	0	2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	0	1	0	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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