ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1937-2A>G

gnomAD frequency: 0.00001  dbSNP: rs770305758
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Total submissions: 2
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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 RCV001258351 SCV001435317 pathogenic Tatton-Brown-Rahman overgrowth syndrome 2020-09-02 criteria provided, single submitter clinical testing
GeneDx RCV001560963 SCV001783476 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing Canonical splice site variant 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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