Submissions for variant NM_001083116.3(PRF1):c.435G>A (p.Val145=)

gnomAD frequency: 0.01164  dbSNP: rs115281140

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245707	SCV000306473	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000536012	SCV000644883	benign	Familial hemophagocytic lymphohistiocytosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000536012	SCV001259243	benign	Familial hemophagocytic lymphohistiocytosis 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001577740	SCV001805170	likely benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261022	SCV002542783	benign	Autoinflammatory syndrome	2021-07-09	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316375	SCV004017099	benign	Lymphoma, non-Hodgkin, familial	2023-07-07	criteria provided, single submitter	clinical testing