ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.111G>A (p.Ala37=)

gnomAD frequency: 0.00002  dbSNP: rs1434570255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001418246 SCV001620471 likely benign Peroxisome biogenesis disorder 9B 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965785 SCV004779782 likely benign PEX7-related condition 2022-10-12 criteria provided, single submitter 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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