ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1230G>A (p.Gly410=)

dbSNP: rs539382251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001277058 SCV001088299 likely benign Zellweger spectrum disorders 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438608 SCV004164304 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PEX1: BP4, BP7
Natera, Inc. RCV001277058 SCV001463793 likely benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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