ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=)

gnomAD frequency: 0.00163  dbSNP: rs147235870
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720187 SCV000524207 benign not provided 2019-10-03 criteria provided, single submitter clinical testing
Invitae RCV000552950 SCV000651280 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001720187 SCV004700938 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003922771 SCV004738992 benign DNMT1-related condition 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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