ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.205C>T (p.Leu69=)

gnomAD frequency: 0.00001  dbSNP: rs1449501202
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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 RCV001440992 SCV001643909 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946152 SCV004759275 likely benign PEX10-related disorder 2023-03-22 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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