ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2901_2907del (p.Met967fs)

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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 RCV002286486 SCV002576445 pathogenic Progressive sclerosing poliodystrophy 2022-08-31 criteria provided, single submitter clinical testing _x000D_This variant was identified as compound heterozygous with NM_002693.3:c.2243G>C. Criteria applied: PVS1, PM3, PM2_SUP, PP4

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