ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.255del (p.Ala86fs)

dbSNP: rs886037613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726828 SCV000703388 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000008631 SCV000028840 pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2001-11-01 no assertion criteria provided literature only

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