ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.358-15G>A (rs38809)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078928 SCV000110788 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301607 SCV000470526 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078928 SCV000540013 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: 88% of total chromosomes in ExAC
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676112 SCV000801855 benign not provided 2015-10-21 no assertion criteria provided clinical testing
PreventionGenetics RCV000078928 SCV000304425 benign not specified criteria provided, single submitter clinical testing

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