ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.477G>A (p.Ala159=)

gnomAD frequency: 0.00003  dbSNP: rs755353408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001418072 SCV001620294 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-11-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900438 SCV004716594 likely benign PEX10-related disorder 2021-12-10 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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