ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) (rs1562846113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680063 SCV000807503 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a pathogenic variant in a male fetus with microcephaly, lower limb contractures, polymicrogyria, caudal appendage, dysmorphic features, cryptorchidism

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