ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)

gnomAD frequency: 0.00124  dbSNP: rs143220470
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000345211 SCV000340615 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing
Invitae RCV000959671 SCV001106591 benign Zellweger spectrum disorders 2024-01-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699282 SCV001924028 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699282 SCV001966444 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000959671 SCV002076810 likely benign Zellweger spectrum disorders 2017-05-08 no assertion criteria provided clinical testing

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