ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2867C>T (p.Ala956Val)

gnomAD frequency: 0.00014  dbSNP: rs200115671
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594263 SCV000709038 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000899457 SCV001043728 likely benign Peroxisome biogenesis disorder 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001541590 SCV001759608 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553343 SCV004758106 likely benign PEX6-related disorder 2021-07-12 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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