ClinVar Miner

Variants in gene RPS6KA2

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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 association total
0 1 44 7 2 1 54

Condition and significance breakdown #

Total conditions: 4
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Condition likely pathogenic uncertain significance likely benign benign association total
not specified 0 43 2 0 0 45
not provided 1 1 4 2 0 7
Autism spectrum disorder 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter likely pathogenic uncertain significance likely benign benign association total
Ambry Genetics 0 43 2 0 0 45
CeGaT Center for Human Genetics Tuebingen 0 0 3 0 0 3
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 2 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 1 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 1 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 1 0 0 1

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