ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp)

gnomAD frequency: 0.00011  dbSNP: rs144533539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224301 SCV001396489 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-12-30 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001224301 SCV002579132 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-04-28 criteria provided, single submitter clinical testing

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