ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) (rs1057517485)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411881 SCV000487557 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-03-29 criteria provided, single submitter clinical testing
Counsyl RCV000409416 SCV000487558 likely pathogenic Peroxisome biogenesis disorder 1B 2016-03-29 criteria provided, single submitter clinical testing

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