ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468761 SCV002764821 pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 2021-11-17 criteria provided, single submitter clinical testing

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