ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) (rs773206107)

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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 RCV000714723 SCV000845450 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714724 SCV000845451 uncertain significance Peroxisome biogenesis disorder 1B 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714725 SCV000845452 uncertain significance Deafness enamel hypoplasia nail defects 2018-08-07 criteria provided, single submitter clinical testing

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