ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.159G>A (p.Ser53=)

gnomAD frequency: 0.00026  dbSNP: rs145694804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001439911 SCV001642814 likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2025-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953125 SCV004769198 likely benign DNMT3B-related disorder 2019-03-15 no assertion criteria provided 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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