ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.107_120del (p.Gly36fs)

dbSNP: rs2104803129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782601 SCV002021668 likely pathogenic not provided 2021-02-08 criteria provided, single submitter clinical testing
OMIM RCV002293256 SCV000044442 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2009-06-01 no assertion criteria provided literature only

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