ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV001375682 SCV001572602 likely pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct criteria provided, single submitter research PM2: not found in gnomAD PM3_Strong: Pathogenic mutation confirmed in trans in two patients and phase unknown in one patient PP1: Segregation in one affected relative PP3: REVEL score > 0.7 PP4: Patient's phenotype highly specific for gene

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