ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=)

gnomAD frequency: 0.00007  dbSNP: rs377704053
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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 RCV000559268 SCV000651286 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506362 SCV002805257 likely benign Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-09-19 criteria provided, single submitter clinical testing

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