ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3806+6C>T

gnomAD frequency: 0.00006  dbSNP: rs371779379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000352192 SCV000344113 uncertain significance not provided 2016-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080416 SCV000651303 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000352192 SCV001914757 benign not provided 2021-02-08 criteria provided, single submitter clinical testing

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