ClinVar Miner

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

dbSNP: rs112851814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596280 SCV000704228 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521124 SCV001730394 benign Peroxisome biogenesis disorder, complementation group K 2024-12-24 criteria provided, single submitter clinical testing

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