ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=)

gnomAD frequency: 0.00001  dbSNP: rs897612567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002627 SCV001160610 likely benign not specified 2019-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001407768 SCV001609749 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2022-11-08 criteria provided, single submitter clinical testing

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