ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.159C>T (p.His53=)

gnomAD frequency: 0.00014  dbSNP: rs200950057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479611 SCV001683915 likely benign Zellweger spectrum disorders 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438823 SCV004164307 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PEX1: BP4, BP7
Natera, Inc. RCV001479611 SCV002079354 likely benign Zellweger spectrum disorders 2021-08-16 no assertion criteria provided clinical testing

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