ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del) (rs61752098)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671429 SCV000796404 uncertain significance Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2017-12-18 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662038 SCV000784374 uncertain significance Peroxisome biogenesis disorder 3A 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662039 SCV000784375 uncertain significance Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-03-05 criteria provided, single submitter clinical testing

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