ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2331C>A (p.Gly777=) (rs10278857)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078920 SCV000110780 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000676106 SCV000968182 benign not provided 2018-06-13 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.
Genetic Services Laboratory, University of Chicago RCV000078920 SCV000152175 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000380113 SCV000470513 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078920 SCV000540012 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 92% of total chromosomes in ExAC
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676106 SCV000801849 benign not provided 2015-10-21 no assertion criteria provided clinical testing
PreventionGenetics RCV000078920 SCV000304420 benign not specified criteria provided, single submitter clinical testing

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