ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3439-14_3439-13del

gnomAD frequency: 0.02536  dbSNP: rs150005994
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243257 SCV000304423 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377457 SCV000470496 likely benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512001 SCV001719336 benign Zellweger spectrum disorders 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001582807 SCV001818745 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Clinical Genetics, Academic Medical Center RCV000243257 SCV001924190 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000243257 SCV001928718 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001512001 SCV002076808 benign Zellweger spectrum disorders 2018-04-11 no assertion criteria provided clinical testing

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