ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) (rs863225084)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675057 SCV000800512 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-03-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075286 SCV001240902 likely pathogenic Retinal dystrophy 2017-09-28 criteria provided, single submitter clinical testing
OMIM RCV000201290 SCV000256089 pathogenic Deafness enamel hypoplasia nail defects 2015-10-01 no assertion criteria provided literature only

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