ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.731A>G (p.His244Arg)

dbSNP: rs1085308010
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489483 SCV000577826 pathogenic not provided 2023-12-13 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: 36305856)
Genetic Services Laboratory, University of Chicago RCV000501420 SCV000595282 likely pathogenic not specified 2017-08-15 criteria provided, single submitter clinical testing

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