ClinVar Miner

Variants studied for ataxia-telangiectasia-like disorder 1

Included ClinVar conditions (2):
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 total
15 11 235 49 18 311

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MRE11 15 10 235 49 18 310
MIR548L, MRE11 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 6 171 30 12 230
Illumina Clinical Services Laboratory,Illumina 0 1 61 10 2 74
Counsyl 1 2 6 9 9 27
Fulgent Genetics,Fulgent Genetics 0 0 17 0 0 17
OMIM 6 0 0 0 0 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 1 2
Baylor Genetics 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 1

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