ClinVar Miner

Variants studied for STING-associated vasculopathy with onset in infancy

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Gene type:
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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 total
7 3 171 100 19 296

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 total
STING1 7 3 144 79 14 243
LOC123522803, STING1 0 0 25 21 5 51
BRD8, CDC23, CDC25C, CTNNA1, DNAJC18, ECSCR, EGR1, ETF1, FAM13B, FAM53C, GFRA3, HNRNPA0, HSPA9, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NME5, PAIP2, PKD2L2, PROB1, REEP2, SIL1, SLC23A1, SNHG4, SPATA24, STING1, WNT8A 0 0 1 0 0 1
DNAJC18, ECSCR, MATR3, MZB1, PAIP2, PROB1, SIL1, SLC23A1, SNHG4, SPATA24, STING1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 1 167 99 19 290
OMIM 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 0 2 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Mendelics 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Servicio de Inmunologia, Hospital Universitario Virgen del Rocio 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 1

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