ClinVar Miner

Submissions for variant NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr)

dbSNP: rs1131691826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494334 SCV000582938 pathogenic not provided 2023-03-24 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26986877)
Ambry Genetics RCV001266705 SCV001444882 likely pathogenic Inborn genetic diseases 2018-05-18 criteria provided, single submitter clinical testing

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