ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=)

gnomAD frequency: 0.00108  dbSNP: rs139861062
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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) RCV000342305 SCV000339951 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
GeneDx RCV001705424 SCV000528794 benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Invitae RCV000871322 SCV001012955 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705424 SCV004139487 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing DNMT1: BP4, BP7, BS1

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