ClinVar Miner

Submissions for variant NC_012920.1:m.14692A>G

dbSNP: rs879192165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248500 SCV002517689 pathogenic Mitochondrial disease 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000258038 SCV000328202 pathogenic Diabetes-deafness syndrome maternally transmitted 2016-10-25 no assertion criteria provided literature only

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