ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.336G>T (p.Leu112=)

dbSNP: rs1194598013
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000952528 SCV001099041 likely benign not provided 2017-06-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836037 SCV002077350 likely benign Zellweger spectrum disorders 2021-07-12 no assertion criteria provided clinical testing

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