ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.768+18C>A

gnomAD frequency: 0.00123  dbSNP: rs200380915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244687 SCV000306773 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000244687 SCV001157695 likely benign not specified 2019-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001530880 SCV001745785 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057980 SCV002403089 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-28 criteria provided, single submitter clinical testing

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