ClinVar Miner

Submissions for variant NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr)

dbSNP: rs1566709825
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV000681567 SCV000809041 likely pathogenic Microphthalmia with limb anomalies no assertion criteria provided literature only Found in homozygosity

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