ClinVar Miner

Submissions for variant NM_001083116.3(PRF1):c.873C>T (p.Ser291=)

gnomAD frequency: 0.00139  dbSNP: rs149008090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974675 SCV001122511 benign Familial hemophagocytic lymphohistiocytosis 2 2024-01-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002261245 SCV002542803 uncertain significance Autoinflammatory syndrome 2019-12-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718803 SCV005321192 benign not provided criteria provided, single submitter not provided

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