ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2487C>T (p.Pro829=) (rs147563527)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726206 SCV000342887 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000291085 SCV000514239 benign not specified 2015-09-18 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726206 SCV000892142 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001087373 SCV001008587 likely benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing

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