ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.150_158del (rs41550117)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188531 SCV000242146 benign not specified 2015-03-11 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.
Invitae RCV000456895 SCV000556253 benign Progressive sclerosing poliodystrophy 2019-12-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188531 SCV000700578 likely benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720046 SCV000850922 likely benign Seizures 2018-10-18 criteria provided, single submitter clinical testing Other strong data supporting benign classification;Other strong data
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196416 SCV001367024 likely benign Myopathy 2018-10-30 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4_MOD,PM2. This variant was detected in heterozygous state.

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