ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)

dbSNP: rs1555549841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668008 SCV000792549 likely pathogenic Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472093 SCV004201455 likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger) 2022-08-30 criteria provided, single submitter clinical testing

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