ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.267C>G (p.Val89=)

gnomAD frequency: 0.00097  dbSNP: rs146359055
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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) RCV000081149 SCV000113057 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Invitae RCV001081866 SCV001045394 benign Peroxisome biogenesis disorder, complementation group K 2024-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952513 SCV004772597 likely benign PEX14-related condition 2019-07-23 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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