ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.748-5del (rs563675060)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180129 SCV000232511 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283574 SCV001157138 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
Invitae RCV001522197 SCV001731690 benign Peroxisome biogenesis disorder 9B 2020-11-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676103 SCV000801845 likely benign not provided 2016-10-14 no assertion criteria provided clinical testing

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