ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.120G>A (p.Glu40=)

gnomAD frequency: 0.00061  dbSNP: rs202118149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878472 SCV001021385 benign Tatton-Brown-Rahman overgrowth syndrome 2025-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001585853 SCV001813285 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495331 SCV002796051 benign Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome 2021-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920472 SCV004731002 benign DNMT3A-related disorder 2022-08-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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