ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2157+12G>A

gnomAD frequency: 0.00001  dbSNP: rs762919106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444763 SCV000534253 likely benign not specified 2016-11-22 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 RCV002060041 SCV002368180 likely benign Progressive sclerosing poliodystrophy 2023-12-18 criteria provided, single submitter clinical testing

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