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: 5
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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.
Breakthrough Genomics, Breakthrough Genomics RCV004709247 SCV005244246 benign not provided criteria provided, single submitter not provided
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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