ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Nilou-Genome Lab RCV001578661 SCV001805924 uncertain significance Peroxisome biogenesis disorder 9B 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001578662 SCV001805925 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2021-07-14 criteria provided, single submitter clinical testing

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