ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)

dbSNP: rs1556862958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497326 SCV000589972 pathogenic not provided 2022-11-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30328660, 30206421, 33921431)
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000497326 SCV001927716 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000497326 SCV001951093 likely pathogenic not provided no assertion criteria provided clinical testing

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