ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4626C>T (p.Thr1542=)

gnomAD frequency: 0.00016  dbSNP: rs760037814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828355 SCV000970041 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Invitae RCV001498370 SCV001703120 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2022-10-27 criteria provided, single submitter clinical testing

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