ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)

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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 RCV001375677 SCV001572597 likely pathogenic Deafness, autosomal recessive 4, with enlarged vestibular aqueduct criteria provided, single submitter research PM2: not found in gnomAD PM3: Pathogenic mutation confirmed in trans in one patient PM5: Another pathogenic missense variant(c.85G>C, p.Glu29Gln) at the same codon PP4: Patient phenotype highly specific for gene

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