ClinVar Miner

Submissions for variant NM_173596.3(SLC39A5):c.227dup (p.Gln77fs)

dbSNP: rs1356255450
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706763 SCV001934238 likely pathogenic Myopia 24, autosomal dominant 2020-10-14 criteria provided, single submitter clinical testing

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