ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV004515751 SCV005013305 likely pathogenic Tatton-Brown-Rahman overgrowth syndrome 2024-03-08 criteria provided, single submitter clinical testing

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