ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3492C>T (p.Cys1164=)

gnomAD frequency: 0.00053  dbSNP: rs140951214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513298 SCV001720891 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2022-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000531964 SCV001887316 benign not provided 2020-08-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000531964 SCV002049671 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935494 SCV004753903 likely benign DNMT1-related disorder 2019-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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