ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.151G>A (p.Glu51Lys)

gnomAD frequency: 0.00001  dbSNP: rs755995375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001247929 SCV001421382 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-11-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507411 SCV001712951 uncertain significance not provided 2019-08-17 criteria provided, single submitter clinical testing

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