ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.-53C>G (rs12386703)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242469 SCV000304414 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385256 SCV000470533 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859852 SCV000754538 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242469 SCV000855299 benign not specified 2017-07-19 criteria provided, single submitter clinical testing

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