ClinVar Miner

Submissions for variant NR_040073.1(MIR181A1HG):n.363+1862C>A

gnomAD frequency: 0.71928  dbSNP: rs60639710
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
H3Africa Consortium RCV001777167 SCV002014646 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.896, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Breakthrough Genomics, Breakthrough Genomics RCV004714028 SCV005287968 benign not provided criteria provided, single submitter not provided
Fujian Institute of Hematology, Fujian Medical University RCV000509081 SCV000577911 pathogenic Acute myeloblastic leukemia with maturation no assertion criteria provided case-control This variant contributes to development of AML-M2

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