ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003326218 SCV004032305 uncertain significance Autosomal dominant nonsyndromic hearing loss 6 2023-08-17 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP,PM2_SUP,PM5_SUP

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