ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.825C>T (p.Asp275=)

dbSNP: rs367649632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593351 SCV000702739 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001080311 SCV001043085 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925778 SCV004743842 likely benign PEX2-related disorder 2019-09-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001279838 SCV001466969 likely benign Zellweger spectrum disorders 2020-09-21 no assertion criteria provided clinical testing

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