ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1077G>A (p.Lys359=)

dbSNP: rs138905930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593028 SCV000702722 likely benign not specified 2018-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001277312 SCV001038427 benign Zellweger spectrum disorders 2025-02-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277312 SCV001464254 uncertain significance Zellweger spectrum disorders 2017-11-06 no assertion criteria provided clinical testing

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