ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1108del (p.Ile370fs) (rs61750406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411495 SCV000487737 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-10-07 criteria provided, single submitter clinical testing
Counsyl RCV000409071 SCV000487738 likely pathogenic Peroxisome biogenesis disorder 1B 2016-10-07 criteria provided, single submitter clinical testing

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