ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.730C>A (p.Pro244Thr)

dbSNP: rs782561430
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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, University of Leipzig Medical Center RCV001262618 SCV001440554 uncertain significance Mitochondrial DNA depletion syndrome 16 (hepatic type) 2019-01-01 criteria provided, single submitter clinical testing

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