ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.176dup (p.Val60fs)

dbSNP: rs769876640
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541787 SCV001759820 pathogenic not provided 2019-04-10 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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