ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2593_2594del (p.Glu865fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV004771614 SCV005382232 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2022-07-14 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PS2, PM2; Variant was found in heterozygous state. De novo-status was confirmed via in-house segregation analysis.

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