ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter)

dbSNP: rs1562835480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000770871 SCV004201912 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2024-03-14 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770871 SCV000902383 pathogenic Autosomal recessive nonsyndromic hearing loss 4 2019-02-26 no assertion criteria provided case-control

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