ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)

gnomAD frequency: 0.00009  dbSNP: rs138243167
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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) RCV000153689 SCV000203246 uncertain significance not provided 2014-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085951 SCV001066249 likely benign Peroxisome biogenesis disorder 2B 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917506 SCV004732904 likely benign PEX5-related disorder 2021-12-09 no assertion criteria provided 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).

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