ClinVar Miner

Variants studied for Ataxia-telangiectasia-like disorder 1

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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
11 11 173 24 24 1 232

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MRE11 11 11 173 24 24 1 232

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 1 106 8 18 0 133
Invitae 1 2 55 6 0 0 64
Counsyl 1 2 6 9 9 0 27
Fulgent Genetics,Fulgent Genetics 0 0 17 0 0 0 17
OMIM 6 0 0 0 0 0 6
Mendelics 2 1 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 0 3 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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