ClinVar Miner

Submissions for variant NM_003630.2(PEX3):c.-247T>C

gnomAD frequency: 0.00187  dbSNP: rs138955442
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000294301 SCV000460593 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695908 SCV005189268 uncertain significance not provided criteria provided, single submitter not provided

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