ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.917G>A (p.Trp306Ter)

gnomAD frequency: 0.00001  dbSNP: rs1465829182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002277693 SCV002564514 pathogenic Neurodevelopmental disorder 2022-05-23 criteria provided, single submitter clinical testing

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