ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.111C>T (p.Phe37=)

gnomAD frequency: 0.00001  dbSNP: rs547321451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000967724 SCV001115141 benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000967724 SCV001261352 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261242 SCV002542760 benign Autoinflammatory syndrome 2020-12-04 criteria provided, single submitter clinical testing

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