ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.299-8G>A

dbSNP: rs112851814
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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) RCV000351423 SCV000342450 uncertain significance not provided 2016-06-19 criteria provided, single submitter clinical testing
Invitae RCV001085340 SCV001054779 likely benign Peroxisome biogenesis disorder, complementation group K 2023-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957497 SCV004768432 likely benign PEX14-related condition 2021-10-29 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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