ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1167C>T (p.Asp389=)

gnomAD frequency: 0.00001  dbSNP: rs140747287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394846 SCV001596537 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2022-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426067 SCV004139490 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004751967 SCV005354320 likely benign DNMT1-related disorder 2024-03-12 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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