ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.21G>A (p.Arg7=)

dbSNP: rs1057523280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429836 SCV000531349 likely benign not specified 2016-08-29 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 RCV002063440 SCV002468539 likely benign Progressive sclerosing poliodystrophy 2022-09-15 criteria provided, single submitter clinical testing

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