ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) (rs121434455)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007949 SCV000220370 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2014-06-05 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000763597 SCV000894442 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000007949 SCV000028154 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 1998-04-14 no assertion criteria provided literature only

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