ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2T>C (p.Met1Thr) (rs766020928)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412294 SCV000487623 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-05-27 criteria provided, single submitter clinical testing
Counsyl RCV000410262 SCV000487624 pathogenic Peroxisome biogenesis disorder 1B 2016-05-27 criteria provided, single submitter clinical testing

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