ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3579del (p.Asp1194fs)

dbSNP: rs1554366802
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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 RCV000578315 SCV000680329 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-11-16 criteria provided, single submitter clinical testing

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