ClinVar Miner

Submissions for variant PEX1, 1-BP DEL, 2916A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007954 SCV000028159 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2002-11-01 no assertion criteria provided literature only
OMIM RCV000032930 SCV000056702 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2002-11-01 no assertion criteria provided literature only

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