ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.769A>G (p.Ile257Val) (rs199874465)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000359695 SCV000475110 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660510 SCV000782610 uncertain significance Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 2017-02-15 criteria provided, single submitter clinical testing

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