ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.51G>A (p.Ala17=)

gnomAD frequency: 0.00002  dbSNP: rs1055980301
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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 RCV001463094 SCV001667027 likely benign Tatton-Brown-Rahman overgrowth syndrome 2024-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900595 SCV004710736 likely benign DNMT3A-related disorder 2021-08-09 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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