ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) (rs144942544)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584993 SCV000693241 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591691 SCV000703814 likely benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660395 SCV000782475 uncertain significance Peroxisome biogenesis disorder 1B 2016-08-21 criteria provided, single submitter clinical testing
Invitae RCV000584993 SCV001095996 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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