ClinVar Miner

Submissions for variant NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)

dbSNP: rs2093229974
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Total submissions: 3
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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 RCV001250985 SCV002044403 likely pathogenic Ververi-Brady syndrome 2021-12-21 criteria provided, single submitter research
Institute of Human Genetics, University Hospital of Duesseldorf RCV001250985 SCV001334275 likely pathogenic Ververi-Brady syndrome 2020-06-03 no assertion criteria provided clinical testing The QRICH1 NM_017730.3:c.2207G>A; p.(Ser736Asn) variant was identified as a de novo mutation in a child displaying the clinical features of Ververi Brady syndrome (PMID: 28692176). The child is the first child of healthy non-consanguineous parents.
OMIM RCV001250985 SCV001712049 pathogenic Ververi-Brady syndrome 2021-07-02 no assertion criteria provided literature only

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