ClinVar Miner

Submissions for variant NM_002857.3(PEX19):c.-41C>T

gnomAD frequency: 0.04456  dbSNP: rs113442137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379398 SCV000482979 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613253 SCV001833013 benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613253 SCV005264288 likely benign not provided criteria provided, single submitter not provided

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