ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1791C>T (p.Leu597=)

gnomAD frequency: 0.00001  dbSNP: rs1370887577
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397508 SCV001599258 likely benign Zellweger spectrum disorders 2023-06-09 criteria provided, single submitter clinical testing

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