ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=)

gnomAD frequency: 0.00108  dbSNP: rs139861062
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000342305 SCV000339951 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
GeneDx RCV001705424 SCV000528794 benign not provided 2020-09-29 criteria provided, single submitter clinical testing
Invitae RCV000871322 SCV001012955 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2021-12-03 criteria provided, single submitter clinical testing

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