ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.141A>G (p.Ala47=)

gnomAD frequency: 0.00075  dbSNP: rs79842991
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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) RCV000349805 SCV000334378 likely benign not specified 2015-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513324 SCV001720924 benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710690 SCV005256957 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004547671 SCV004784064 likely benign PEX13-related disorder 2019-10-15 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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