ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.1353G>A (p.Glu451=)

gnomAD frequency: 0.00004  dbSNP: rs200912653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001934159 SCV002213043 likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2023-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948834 SCV004768261 likely benign DNMT3B-related disorder 2020-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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