ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) (rs954814470)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669293 SCV000794033 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-11-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729582 SCV000857255 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing

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