ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.*438_*441TAAA[1] (rs144286892)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000360304 SCV000463331 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734624 SCV000862780 benign not specified 2018-08-08 criteria provided, single submitter clinical testing
Invitae RCV000960459 SCV001107431 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
OMIM RCV000584757 SCV000692477 benign PEX6 POLYMORPHISM 2019-12-18 no assertion criteria provided literature only

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