ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3363A>G (p.Glu1121=)

gnomAD frequency: 0.00001  dbSNP: rs773341540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434329 SCV000527359 likely benign not specified 2016-05-18 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 RCV002062788 SCV002351601 likely benign Progressive sclerosing poliodystrophy 2024-01-21 criteria provided, single submitter clinical testing

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