ClinVar Miner

Submissions for variant NR_040073.1(MIR181A1HG):n.363+26A>G

gnomAD frequency: 0.73974  dbSNP: rs10800598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777169 SCV002014645 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.917, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Fujian Institute of Hematology, Fujian Medical University RCV000509077 SCV000577913 pathogenic Acute myeloblastic leukemia with maturation no assertion criteria provided case-control This variant contributes to development of AML-M2

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