ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)

dbSNP: rs2129316898
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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 RCV001375690 SCV001572611 pathogenic Autosomal recessive nonsyndromic hearing loss 4 no assertion criteria provided research PVS1: Null variant in the gene with established LOF as a disease mechanism PP1: Segregation in one affected relative PM2: not found in gnomAD PM3_Strong: Pathogenic mutation phase known in two patients PP4: Patient's phenotype highly specific for gene

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