ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)

dbSNP: rs61752098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662038 SCV000784374 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662039 SCV000784375 uncertain significance Peroxisome biogenesis disorder 2018-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000671429 SCV000796404 uncertain significance Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-12-18 criteria provided, single submitter clinical testing

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