ClinVar Miner

Submissions for variant NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) (rs1357462196)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671695 SCV000796696 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-12-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000735182 SCV000863385 uncertain significance not provided 2018-09-17 criteria provided, single submitter clinical testing

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