ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2783+6T>C

dbSNP: rs1585224298
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Total submissions: 1
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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 RCV000790935 SCV000930187 uncertain significance Peroxisome biogenesis disorder 1B 2019-04-27 criteria provided, single submitter clinical testing

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