ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)

dbSNP: rs28940308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000002236 SCV004201516 likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger) 2023-02-01 criteria provided, single submitter clinical testing
OMIM RCV000002236 SCV000022394 pathogenic Peroxisome biogenesis disorder 7A (Zellweger) 2003-08-01 no assertion criteria provided literature only

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