ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1078_1095dup (p.Tyr365_Arg366insAsnLysGlnProMetTyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, CHRU Nancy RCV004723561 SCV004805245 likely pathogenic Tatton-Brown-Rahman overgrowth syndrome 2024-03-24 criteria provided, single submitter clinical testing
GeneDx RCV004767514 SCV005375526 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 6 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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