ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2730del (p.Leu910fs) (rs61750423)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169346 SCV000220714 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2014-09-19 criteria provided, single submitter literature only

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