ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del)

dbSNP: rs1564724291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003329336 SCV004037016 likely pathogenic not provided 2023-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of 3 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 15609274)
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761453 SCV000891543 pathogenic Familial hemophagocytic lymphohistiocytosis 2 2024-06-12 no assertion criteria provided curation

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