ClinVar Miner

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

dbSNP: rs61753233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000008233 SCV004201633 pathogenic Peroxisome biogenesis disorder 9B 2023-10-16 criteria provided, single submitter clinical testing
OMIM RCV000008233 SCV000028440 pathogenic Peroxisome biogenesis disorder 9B 2003-02-01 no assertion criteria provided literature only
GeneReviews RCV000032117 SCV000055657 not provided Rhizomelic chondrodysplasia punctata type 1 no assertion provided literature only

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