ClinVar Miner

Submissions for variant NM_001190737.2(NFIB):c.115C>T (p.Arg39Cys)

dbSNP: rs1588253471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999138 SCV001155613 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000999138 SCV001756453 pathogenic not provided 2023-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36756855)
MGZ Medical Genetics Center RCV002275199 SCV002562245 likely pathogenic Macrocephaly, acquired, with impaired intellectual development 2022-05-24 criteria provided, single submitter clinical testing

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