ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)

gnomAD frequency: 0.00270  dbSNP: rs142838522
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174683 SCV000226029 benign not specified 2015-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085472 SCV001121714 benign Zellweger spectrum disorders 2025-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676107 SCV005265741 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676107 SCV000801850 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000676107 SCV001798154 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000676107 SCV001966274 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001085472 SCV002076870 likely benign Zellweger spectrum disorders 2017-10-16 no assertion criteria provided clinical testing

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