ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.333C>T (p.Leu111=)

dbSNP: rs781710848
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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) RCV000356298 SCV000343936 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001443120 SCV001646086 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977809 SCV004790300 likely benign PEX10-related disorder 2021-12-29 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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