ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.1585C>A (p.Leu529Met)

dbSNP: rs1848154029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198177 SCV001369034 uncertain significance Lymphoma, non-Hodgkin, familial 2019-04-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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