ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.832_833del (p.Ser278fs)

dbSNP: rs2093408575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001194624 SCV001334434 pathogenic Intellectual disability 2020-06-05 criteria provided, single submitter clinical testing The frameshifting variant c.832_833delAG, p.(Ser278Leufs*25) was identified by exome sequencing in a 16 year old female individual with mild intellectual disability and behavioral problems. This variant has not been reported in the general population or the literature. The variant was excluded in both healthy and unrelated parents using Sanger sequencing and sample relationships were confirmed. The variant thus arose de novo.
Institute of Human Genetics, University of Leipzig Medical Center RCV001507075 SCV002044377 pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research
Institute of Human Genetics, University Hospital of Duesseldorf RCV001507075 SCV004171170 pathogenic Ververi-Brady syndrome criteria provided, single submitter not provided
OMIM RCV001507075 SCV001712050 pathogenic Ververi-Brady syndrome 2021-06-04 no assertion criteria provided literature only

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