ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)

gnomAD frequency: 0.00008  dbSNP: rs150359172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729446 SCV000857112 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000729446 SCV001814752 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067095 SCV002444617 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908031 SCV004718315 likely benign DNMT1-related disorder 2019-06-12 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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