ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)

dbSNP: rs1290567099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989379 SCV001139684 pathogenic Progressive sclerosing poliodystrophy 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992691 SCV001145169 uncertain significance not provided 2018-11-20 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468611 SCV002764838 likely pathogenic Mitochondrial DNA depletion syndrome 4b 2022-07-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000989379 SCV005056572 pathogenic Progressive sclerosing poliodystrophy 2024-02-16 criteria provided, single submitter clinical testing

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