ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=)

gnomAD frequency: 0.00002  dbSNP: rs539948794
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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) RCV000726550 SCV000345446 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000292291 SCV000529248 likely benign not specified 2016-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001468950 SCV001673021 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726550 SCV004146645 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7

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