ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=)

gnomAD frequency: 0.00002  dbSNP: rs747144567
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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 RCV001410822 SCV001612874 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502933 SCV002805498 likely benign Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-09-09 criteria provided, single submitter clinical testing

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