ClinVar Miner

Submissions for variant NM_173596.3(SLC39A5):c.1495C>T (p.Arg499Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990952 SCV004808065 uncertain significance Myopia 24, autosomal dominant 2024-03-29 criteria provided, single submitter clinical testing

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