Submissions for variant NM_001083116.3(PRF1):c.462A>G (p.Ala154=)

gnomAD frequency: 0.01461  dbSNP: rs116554195

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251254	SCV000306474	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000525080	SCV000363435	benign	Familial hemophagocytic lymphohistiocytosis 2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000525080	SCV000644885	benign	Familial hemophagocytic lymphohistiocytosis 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001552962	SCV001773744	likely benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261023	SCV002542784	benign	Autoinflammatory syndrome	2021-05-18	criteria provided, single submitter	clinical testing