ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.327C>T (p.Asn109=)

gnomAD frequency: 0.00007  dbSNP: rs144685297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727879 SCV000855382 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078855 SCV001097388 likely benign Hereditary sensory neuropathy-deafness-dementia syndrome 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000727879 SCV001766533 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing

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