ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.189-2A>G

dbSNP: rs1554328952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671094 SCV000796039 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2017-11-28 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004568540 SCV005051929 likely pathogenic Peroxisome biogenesis disorder 9B 2024-02-01 criteria provided, single submitter curation

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