ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2480+17G>A

gnomAD frequency: 0.00001  dbSNP: rs762669285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188514 SCV000242128 benign not specified 2014-06-18 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 RCV002054218 SCV002382271 likely benign Progressive sclerosing poliodystrophy 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000188514 SCV004813939 likely benign not specified 2024-02-19 criteria provided, single submitter clinical testing

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