ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.9683_9684del (p.Asp3227_Ser3228insTer)

dbSNP: rs2101637757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255060 SCV002526330 pathogenic not provided 2022-06-10 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 834 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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