ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.330C>T (p.Gly110=)

gnomAD frequency: 0.00004  dbSNP: rs772527603
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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) RCV000731291 SCV000859091 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855758 SCV002215863 likely benign Peroxisome biogenesis disorder, complementation group K 2024-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892633 SCV004716101 likely benign PEX14-related disorder 2021-06-28 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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