ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser)

gnomAD frequency: 0.00003  dbSNP: rs1223065154
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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 RCV000551197 SCV000651288 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2022-12-06 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696943 SCV005197757 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing

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