ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2852dup (p.His951fs) (rs767877383)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674644 SCV000800017 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-05-18 criteria provided, single submitter clinical testing

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