ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2322+1G>A

dbSNP: rs903011938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801261 SCV002047469 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2021-08-25 criteria provided, single submitter clinical testing

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