ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.935G>A (p.Trp312Ter)

dbSNP: rs2145443002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002463040 SCV002757308 pathogenic not provided 2022-06-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001814613 SCV002060988 pathogenic Malan overgrowth syndrome no assertion criteria provided case-control

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