ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.717C>T (p.Thr239=)

dbSNP: rs2132043284
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001395099 SCV001596799 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2019-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836394 SCV002083359 likely benign Zellweger spectrum disorders 2021-09-09 no assertion criteria provided clinical testing

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