ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.-17-2A>G (rs1289852067)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672992 SCV000798154 uncertain significance Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 2018-02-28 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001251181 SCV001426537 likely pathogenic Peroxisome biogenesis disorder 5a (zellweger) criteria provided, single submitter clinical testing

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