ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) (rs61753233)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032117 SCV000055657 pathologic Rhizomelic chondrodysplasia punctata type 1 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000008233 SCV000028440 pathogenic Peroxisome biogenesis disorder 9B 2003-02-01 no assertion criteria provided literature only

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