ClinVar Miner

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

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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 6 636 446 23 1 1146

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADAR 34 6 590 399 18 1 1045
ADAR, LOC126805874 4 0 38 37 4 0 81
ADAR, LOC129931512 0 0 8 10 1 0 19
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 4 635 445 23 0 1146
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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