ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.260T>C (p.Ile87Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716139 SCV000846975 uncertain significance Seizures 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GenomeConnect, ClinGen RCV000709970 SCV000840334 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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