Submissions for variant NM_001083116.3(PRF1):c.726C>T (p.Cys242=)

gnomAD frequency: 0.01263  dbSNP: rs35329429

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241754	SCV000306478	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543758	SCV000644892	benign	Familial hemophagocytic lymphohistiocytosis 2	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000543758	SCV001264278	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002261024	SCV002542795	benign	Autoinflammatory syndrome	2021-11-04	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316377	SCV004017102	benign	Lymphoma, non-Hodgkin, familial	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705087	SCV005228147	likely benign	not provided		criteria provided, single submitter	not provided