ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) (rs141368794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193924 SCV000248393 uncertain significance not specified 2015-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766101 SCV000897580 uncertain significance Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 2018-10-31 criteria provided, single submitter clinical testing

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