ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del)

dbSNP: rs796051860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000005199 SCV003918852 likely pathogenic Usher syndrome type 1D 2023-04-21 criteria provided, single submitter clinical testing
OMIM RCV000005199 SCV000025376 pathogenic Usher syndrome type 1D 2001-01-01 no assertion criteria provided literature only

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