ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1530G>A (p.Glu510=)

gnomAD frequency: 0.00001  dbSNP: rs561762200
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001481880 SCV001686237 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-10-25 criteria provided, single submitter clinical testing

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