ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3510G>A (p.Leu1170=)

gnomAD frequency: 0.00001  dbSNP: rs368014758
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 RCV001502469 SCV001707303 likely benign Zellweger spectrum disorders 2023-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001502469 SCV001190698 likely benign Zellweger spectrum disorders 2019-05-20 no assertion criteria provided clinical testing

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