ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3949-9dup

dbSNP: rs780030001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000966633 SCV001773204 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Invitae RCV001858597 SCV002267776 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2022-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354860 SCV002620952 likely benign Inborn genetic diseases 2019-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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