ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.855C>T (p.Gly285=)

gnomAD frequency: 0.00003  dbSNP: rs755151805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056754 SCV001221216 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001593228 SCV001822981 uncertain significance not provided 2020-06-03 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002479346 SCV002794519 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-09-13 criteria provided, single submitter clinical testing

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