ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2070+14C>G

gnomAD frequency: 0.00001  dbSNP: rs1057520351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441281 SCV000514235 likely benign not specified 2016-03-10 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 RCV002521533 SCV003454004 likely benign Progressive sclerosing poliodystrophy 2022-01-06 criteria provided, single submitter clinical testing

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