ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2601T>C (p.Pro867=) (rs201749977)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127526 SCV000171103 benign not specified 2014-04-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000403402 SCV000394272 uncertain significance POLG-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734626 SCV000862782 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000734626 SCV001006842 likely benign not provided 2018-08-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709782 SCV000840105 not provided Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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