ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)

dbSNP: rs1476190682
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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 RCV001375678 SCV001572598 pathogenic Autosomal recessive nonsyndromic hearing loss 4 criteria provided, single submitter research PVS1: Null variant in the gene with established LOF as a disease mechanism PM2: not found in gnomAD PM3: Pathogenic mutation confirmed in trans in one patient PP4: Patient's phenotype highly specific for gene

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