ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter)

dbSNP: rs782004592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV002512479 SCV002822889 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 criteria provided, single submitter clinical testing

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