ClinVar Miner

Submissions for variant NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter) (rs1566328963)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenHotel - European Research Laboratory for Rheumatoid Arthritis,University of Paris Saclay RCV000760295 SCV000807703 risk factor Rheumatoid arthritis 2017-06-16 no assertion criteria provided research The NM_001278480.1:c.73A>T variant has been identified in one French family with multiple cases of rheumatoid arthritis. It had a complete penetrance with the disease in the reported family and was absent from public databases (1000 Genomes project, Exome Aggregation Consortium project and NHLBI Exome Sequencing Project). In addition, the results of an association and linkage analysis support the classification of this variant as risk factor (p-value = 0.0029).

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