ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2508+2T>A

dbSNP: rs992259659
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268660 SCV001447749 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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