ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)

dbSNP: rs1554372756
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Total submissions: 2
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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 RCV000578442 SCV000680331 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-11-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676109 SCV000801852 uncertain significance not provided 2017-07-26 no assertion criteria provided clinical testing

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