ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.444C>T (p.Ala148=)

gnomAD frequency: 0.00389  dbSNP: rs61737403
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548941 SCV000644884 benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000548941 SCV001259242 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 RCV002263781 SCV002542365 likely benign Autoinflammatory syndrome 2020-07-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316709 SCV004017105 benign Lymphoma, non-Hodgkin, familial 2023-07-07 criteria provided, single submitter clinical testing

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