ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.*446_*452dup

gnomAD frequency: 0.00032  dbSNP: rs771366153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000405083 SCV000381101 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing

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