ClinVar Miner

Submissions for variant NM_003630.3(PEX3):c.942-8T>G

dbSNP: rs267608193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000778169 SCV000914248 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2019-05-23 criteria provided, single submitter clinical testing
OMIM RCV000006998 SCV000027194 pathogenic Peroxisome biogenesis disorder 10A (Zellweger) 2000-10-01 no assertion criteria provided literature only

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