ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter)

dbSNP: rs1559931177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708566 SCV000837684 pathogenic Ververi-Brady syndrome 2018-07-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000708566 SCV002044388 pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research

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