ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1446C>T (p.Asp482=)

dbSNP: rs202053662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438165 SCV000518188 likely benign not specified 2017-12-14 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.
CeGaT Center for Human Genetics Tuebingen RCV001311061 SCV001501093 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421258 SCV001623781 likely benign Progressive sclerosing poliodystrophy 2024-11-11 criteria provided, single submitter clinical testing

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