ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) (rs115960224)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244237 SCV000303461 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244237 SCV000340676 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514084 SCV000610127 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Invitae RCV000514084 SCV001028401 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Mendelics RCV000987702 SCV001137121 benign Peroxisome biogenesis disorder 4a (zellweger) 2019-05-28 criteria provided, single submitter clinical testing

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