ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.538_539del (p.Leu180fs)

dbSNP: rs1582757650
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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 RCV001004179 SCV001162997 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473545 SCV004201627 likely pathogenic Peroxisome biogenesis disorder 9B 2024-03-02 criteria provided, single submitter clinical testing

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