ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.418del (p.Gln140fs)

dbSNP: rs2106907255
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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 RCV002277749 SCV002564666 pathogenic Ververi-Brady syndrome 2022-08-23 criteria provided, single submitter clinical testing

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