ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.795T>C (p.Tyr265=)

gnomAD frequency: 0.00002  dbSNP: rs764785488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000405154 SCV000345614 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV001078844 SCV001079983 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275869 SCV001461516 likely benign Zellweger spectrum disorders 2020-09-16 no assertion criteria provided clinical testing

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