ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)

dbSNP: rs2129317902
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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 RCV001375681 SCV001572601 likely pathogenic Autosomal recessive nonsyndromic hearing loss 4 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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