ClinVar Miner

Submissions for variant NM_022893.4(BCL11A):c.386-24278G>A

gnomAD frequency: 0.65121  dbSNP: rs11886868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000788113 SCV001135881 benign Dias-Logan syndrome 2019-05-28 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777149 SCV002014659 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.8, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000115062 SCV000148970 probable-pathogenic Fetal hemoglobin quantitative trait locus 5 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Reproductive Health Research and Development, BGI Genomics RCV000788113 SCV000925661 benign Dias-Logan syndrome 2020-01-06 no assertion criteria provided curation NG_011968.1(NM_018014.3):c.386-24278G>A in the BCL11A gene has an allele frequency of 0.713 in African subpopulation in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1.

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