ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1251-20T>C

dbSNP: rs769062935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842669 SCV000984699 likely benign not provided 2018-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064411 SCV002421965 likely benign Progressive sclerosing poliodystrophy 2023-09-26 criteria provided, single submitter clinical testing

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