ClinVar Miner

Submissions for variant NM_004813.2(PEX16):c.-279G>A

gnomAD frequency: 0.02963  dbSNP: rs2280330
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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 RCV000334197 SCV000372074 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711782 SCV001946722 benign not provided 2019-04-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711782 SCV005224246 likely benign not provided criteria provided, single submitter not provided

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