ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.318C>G (p.Val106=) (rs142072315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729073 SCV000856709 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Invitae RCV001078816 SCV001053309 likely benign Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-12-31 criteria provided, single submitter clinical testing

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