ClinVar Miner

Variants studied for Aicardi-Goutieres syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
24 19 200 231 15 11 471

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
RNASEH2A 18 17 167 204 13 8 403
LOC117038795, RNASEH2A 5 2 32 27 2 3 66
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 0 0 0 0 1
DNASE2, GCDH, KLF1, MAST1, RNASEH2A, RTBDN, SYCE2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 18 9 179 229 13 0 448
Illumina Laboratory Services, Illumina 0 0 24 2 9 0 35
GeneReviews 0 0 0 0 0 11 11
Fulgent Genetics, Fulgent Genetics 0 1 7 0 0 0 8
OMIM 6 0 0 0 0 0 6
3billion 0 2 2 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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