ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val)

gnomAD frequency: 0.00001  dbSNP: rs559273196
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579261 SCV001806729 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579262 SCV001806730 uncertain significance Pendred syndrome 2021-07-22 criteria provided, single submitter clinical testing

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