ClinVar Miner

Submissions for variant NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln)

gnomAD frequency: 0.00001  dbSNP: rs201060425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762472 SCV000892795 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488793 SCV002798318 uncertain significance Autosomal recessive nonsyndromic hearing loss 61 2022-01-12 criteria provided, single submitter clinical testing

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