ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=)

gnomAD frequency: 0.00014  dbSNP: rs375421208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501518 SCV000594389 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527240 SCV003448669 likely benign Tatton-Brown-Rahman overgrowth syndrome 2024-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915371 SCV004735622 likely benign DNMT3A-related disorder 2022-06-08 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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