ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.914dup (p.Gly306fs)

dbSNP: rs2106905056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526610 SCV001737040 likely pathogenic Intellectual disability criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001799766 SCV002044379 likely pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research

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