ClinVar Miner

Submissions for variant NM_001080477.4(TENM3):c.1558C>T (p.Arg520Ter)

dbSNP: rs919662130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000790519 SCV000929850 pathogenic Microphthalmia, isolated, with coloboma 9 criteria provided, single submitter research

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